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Ophthalmology2131 papers

Hereditary disorder of nervous system

Last edited: 4/13/2026

Overview

Hereditary disorders affecting the nervous system encompass a broad range of conditions, including retinitis pigmentosa (RP) and Stargardt disease, characterized by progressive vision loss due to retinal degeneration. These conditions often have genetic origins and can manifest with varying degrees of severity.

Diagnosis

  • Clinical Presentation: Night blindness, peripheral vision loss, and characteristic retinal changes (RP) 236.
  • Ophthalmic Tests: Fundus examination showing retinal pigmentation and attenuation of retinal vessels (RP), macular appearance in Stargardt disease 16.
  • Electroretinography (ERG): Abnormal b-wave amplitudes indicative of photoreceptor dysfunction 616.
  • Genetic Testing: Identification of specific gene mutations (e.g., RBP4 in RP 5, mutations in genes associated with tapeto-retinal dystrophies 44).
  • Imaging: OCT for macular edema or structural changes 812.
  • Family History: Important for confirming hereditary patterns 44.

    • Management

  • Low Vision Aids: Use of visual aids to improve daily functioning (e.g., LVAs in Stargardt's disease 3051).
  • Photographic Techniques: Grid laser photocoagulation for managing macular edema in RP 18.
  • Regular Monitoring: Periodic ERG and visual field assessments to track disease progression 616.
  • Supportive Therapies: No specific pharmacological treatments; focus on supportive care and rehabilitation 6.

    • Special Populations

  • Pregnancy: Congenital cataracts can occur due to maternal total parenteral nutrition (TPN) use 9.
  • Pediatrics: Early diagnosis and intervention crucial for managing visual impairment 3051.
  • Comorbidities: RP can coexist with conditions like sickle cell disease and Noonan syndrome, requiring multidisciplinary care 2123.

    • Key Recommendations

  • Genetic Testing for Confirmation: Utilize genetic testing to confirm diagnosis and identify specific mutations (Evidence: Moderate 544).
  • Regular ERG Monitoring: Perform regular electroretinography to monitor disease progression and response to interventions (Evidence: Moderate 616).
  • Use of Low Vision Aids: Implement low vision aids to enhance quality of life and functional independence (Evidence: Expert opinion 3051).
  • Avoid Maternal TPN During Pregnancy: Minimize risk of congenital cataracts by avoiding unnecessary total parenteral nutrition in pregnant women (Evidence: Weak 9).
  • Multidisciplinary Care for Comorbidities: Provide comprehensive care addressing coexisting conditions like sickle cell disease or Noonan syndrome (Evidence: Expert opinion 2123).

    • References

    1 Pinheiro L, Tsang SH, Sharma T. Stargardt Disease. Advances in experimental medicine and biology 2025. link 2 Khojasteh H, Riazi-Esfahani H, Mirghorbani M, Khalili Pour E, Mahmoudi A, Mahdizad Z et al.. Cataract surgery in patients with retinitis pigmentosa: systematic review. Journal of cataract and refractive surgery 2023. link 3 Mishra C, Sen S, Kannan NB, Ramasamy K. Unilateral retinitis pigmentosa associated with cystoid macular oedema. The National medical journal of India 2023. link 4 Lin F, Xie M, Sheng X, Guo L, Jia J, Wang Y. Research trends in the field of retinitis pigmentosa from 2002 to 2021: a 20 years bibliometric analysis. International ophthalmology 2023. link 5 Cehajic-Kapetanovic J, Jasani KM, Shanks M, Clouston P, MacLaren RE. A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris. Ophthalmic genetics 2020. link 6 Johnson MA, Jeffrey BG, Messias AMV, Robson AG. ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave. Documenta ophthalmologica. Advances in ophthalmology 2019. link 7 Albert DM. Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research. Ophthalmology. Retina 2019. link 8 Osigian CJ, Grace SF, Cavuoto KM, Feuer WJ, Tavakoli M, Saksiriwutto P et al.. Assessing nonsedated handheld cone flicker electroretingram as a screening test in pediatric patients: comparison to sedated conventional cone flicker electroretinogram. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019. link 9 Heerasing N, Dowling D. Congenital cataracts following total parenteral nutrition (TPN) use during pregnancy. European journal of clinical nutrition 2014. link 10 Hollingsworth TJ, Gross AK. Defective trafficking of rhodopsin and its role in retinal degenerations. International review of cell and molecular biology 2012. link 11 Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E. Congenital cataracts, facial dysmorphism, and neuropathy syndrome. Pediatric neurology 2011. link 12 Kaltwasser C, Horn FK, Kremers J, Juenemann A, Bergua A. Objective visual field determination in forensic ophthalmology with an optimized 4-channel multifocal VEP perimetry system: a case report of a patient with retinitis pigmentosa. Documenta ophthalmologica. Advances in ophthalmology 2011. link 13 Dean S, Cox M, Heptinstall J, Walton DJ, Mikhailov VA, Cooper HJ et al.. Nitration of lysozyme by ultrasonic waves; demonstration by immunochemistry and mass spectrometry. Ultrasonics sonochemistry 2011. link 14 Burns ME. Deactivation mechanisms of rod phototransduction: the Cogan lecture. Investigative ophthalmology & visual science 2010. link 15 Papasarantos I, Klimentzou P, Koutrafouri V, Anagnostouli M, Zikos C, Paravatou-Petsotas M et al.. Solid-phase synthesis of a biotin derivative and its application to the development of anti-biotin antibodies. Applied biochemistry and biotechnology 2010. link 16 Marmor MF. A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). Documenta ophthalmologica. Advances in ophthalmology 2006. link 17 Sanatani S, Mahkseed N, Vallance H, Brugada R. The Brugada ECG pattern in a neonate. Journal of cardiovascular electrophysiology 2005. link 18 Flouris AD, Klentrou P. The need for energy equilibrium. Journal of science and medicine in sport 2005. link80003-9) 19 Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. Human mutation 2003. link 20 Komáromy AM, Andrew SE, Sapp HL, Brooks DE, Dawson WW. Flash electroretinography in standing horses using the DTL microfiber electrode. Veterinary ophthalmology 2003. link 21 Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G. Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. Indian journal of ophthalmology 2001. link 22 Saviranta P, Haavisto T, Rappu P, Karp M, Lövgren T. In vitro enzymatic biotinylation of recombinant fab fragments through a peptide acceptor tail. Bioconjugate chemistry 1998. link 23 Lorenzetti ME, Fryns JP. Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?. American journal of medical genetics 1996. link1096-8628(19961016)65:2<97::AID-AJMG1>3.0.CO;2-R) 24 Kehne J, Weber-Schürholz S, Meyer HE, Schürholz T. Purification of the CIC-0 chloride channel from Torpedo california electroplax identification of a phosphorylation site for cAMP-dependent protein kinase. Biological chemistry Hoppe-Seyler 1996. link 25 Petrenko VA, Smith GP, Gong X, Quinn T. A library of organic landscapes on filamentous phage. Protein engineering 1996. link 26 Cagini C, Menduno P, Ricci G, Molini E, Pennacchi A. Study of functionality of cochlear outer hair cells in patients with retinitis pigmentosa. Survey of ophthalmology 1995. link80070-0) 27 Dietmaier W, Fabry S, Huber H, Schmitt R. Analysis of a family of ypt genes and their products from Chlamydomonas reinhardtii. Gene 1995. link00052-8) 28 Horn F, Korth M. Differences between pattern-evoked electroretinograms obtained by a scanning laser ophthalmoscope and by a mechanical mirror system. Documenta ophthalmologica. Advances in ophthalmology 1994. link 29 Zimmer EZ, Bronshtein M, Ophir E, Meizner I, Auslender R, Groisman G et al.. Sonographic diagnosis of fetal congenital cataracts. Prenatal diagnosis 1993. link 30 Temel A, Kazokoğlu H. Low-vision aids in Stargardt's disease. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 1991. link 31 Matsumoto S, Kuno T, Hamasaki Y, Miyazaki S, Miyabara S, Narisawa Y. Setleis bitemporal "forceps marks" syndrome and its pathogenesis: a case report. Acta paediatrica Japonica : Overseas edition 1991. link 32 Omotade OO. Facial measurements in the newborn (towards syndrome delineation). Journal of medical genetics 1990. link 33 Hensel M, Deckers-Hebestreit G, Schmid R, Altendorf K. Orientation of subunit c of the ATP synthase of Escherichia coli--a study with peptide-specific antibodies. Biochimica et biophysica acta 1990. link90007-q) 34 Rosenberg T. Prevalence of tapeto-retinal dystrophies among Danish children. Documenta ophthalmologica. Advances in ophthalmology 1989. link 35 Collins DM, Hargis PS. Distribution of fatty acid binding proteins in tissues and plasma of Gallus domesticus. Comparative biochemistry and physiology. B, Comparative biochemistry 1989. link90279-4) 36 Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ. Clinical findings and common symptoms in retinitis pigmentosa. American journal of ophthalmology 1988. link90242-5) 37 Nilsson SE, Andersson BE. Corneal D.C. recordings of slow ocular potential changes such as the ERG c-wave and the light peak in clinical work. Equipment and examples of results. Documenta ophthalmologica. Advances in ophthalmology 1988. link 38 Newsome DA, Blacharski PA. Grid photocoagulation for macular edema in patients with retinitis pigmentosa. American journal of ophthalmology 1987. link74221-7) 39 Sekhar HK, Sachs M, Siverls VC. Hanhart's syndrome with special reference to temporal bone findings. The Annals of otology, rhinology, and laryngology 1987. link 40 Sun SS, Altenbach SB, Leung FW. Properties, biosynthesis and processing of a sulfur-rich protein in Brazil nut (Bertholletia excelsa H.B.K.). European journal of biochemistry 1987. link 41 Brandsch R, Bichler V, Nagursky H. Covalent flavinylation of 6-hydroxy-D-nicotine oxidase analyzed by partial deletions of the gene. European journal of biochemistry 1987. link 42 Nir I, Sagie G, Papermaster DS. Opsin accumulation in photoreceptor inner segment plasma membranes of dystrophic RCS rats. Investigative ophthalmology & visual science 1987. link 43 Rabin J. Visual function in retinitis pigmentosa. Journal of the American Optometric Association 1986. link 44 Lemmon V. A monoclonal antibody that binds to cones. Investigative ophthalmology & visual science 1986. link 45 van Veen T, Vigh-Teichmann I, Vigh B, Hartwig HG. Light and electron microscopy of S-antigen- and opsin-immunoreactive photoreceptors in the retina of turtle, chicken, and hedgehog. Experimental biology 1986. link 46 Amaya Y, Takiguchi M, Hashimoto T, Mori M. Molecular cloning of cDNA for rat mitochondrial 3-hydroxyacyl-CoA dehydrogenase. European journal of biochemistry 1986. link 47 Rodrigues MM, Wiggert B, T'so MO, Chader GJ. Retinitis pigmentosa: immunohistochemical and biochemical studies of the retina. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 1986. link 48 Porrello K, LaVail MM. Immunocytochemical localization of chondroitin sulfates in the interphotoreceptor matrix of the normal and dystrophic rat retina. Current eye research 1986. link 49 Anderson DH, Neitz J, Saari JC, Kaska DD, Fenwick J, Jacobs GH et al.. Retinoid-binding proteins in cone-dominant retinas. Investigative ophthalmology & visual science 1986. link 50 Schneider BG, Papermaster DS, Liou GI, Fong SL, Bridges CD. Electron microscopic immunocytochemistry of interstitial retinol-binding protein in vertebrate retinas. Investigative ophthalmology & visual science 1986. link 51 Collee CM, Jalkh AE, Weiter JJ, Friedman GR. Visual improvement with low vision aids in Stargardt's disease. Ophthalmology 1985. link34086-1) 52 Szél A, Röhlich P. Localization of visual pigment antigens to photoreceptor cells with different oil droplets in the chicken retina. Acta biologica Hungarica 1985. link 53 Eisenfeld AJ, Bunt-Milam AH, Saari JC. Immunocytochemical localization of interphotoreceptor retinoid-binding protein in developing normal and RCS rat retinas. Investigative ophthalmology & visual science 1985. link 54 Sikorav JL, Vallette F, Grassi J, Massoulié J. Isolation of a cDNA clone for a catalytic subunit of Torpedo marmorata acetylcholinesterase. FEBS letters 1985. link80142-3) 55 Bhaya D, Jagendorf AT. Synthesis of the alpha and beta subunits of coupling factor 1 by polysomes from pea chloroplasts. Archives of biochemistry and biophysics 1985. link90272-3) 56 Faulkner DJ, Kemp CM. Human rhodopsin measurement using a T.V.-based imaging fundus reflectometer. Vision research 1984. link90124-x) 57 Margulies MM. Synthesis of photosynthetic membrane proteins directed by RNA from rough thylakoids of Chlamydomonas reinhardtii. European journal of biochemistry 1983. link 58 Charney RE, Kraushar MF, Appel N. Stargardt's type macular dystrophy associated with retinitis pigmentosa. Annals of ophthalmology 1982. link 59 Lisanti MP, Shapiro LS, Moskowitz N, Hua EL, Puszkin S, Schook W. Isolation and preliminary characterization of clathrin-associated proteins. European journal of biochemistry 1982. link 60 Hoeft WW, Hughes MK. A comparative study of low-vision patients: Their ocular disease and preference for one specific series of light transmission filters. American journal of optometry and physiological optics 1981. link 61 van Lith G. Quantitative evaluation of the electroretinogram. Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde 1981. link 62 Kipps A, Sevel D, McIntyre J. Rubella infection and other factors associated with congenital cataracts in Cape Town. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1979. link 63 Stark WJ, Taylor HR, Michels RG, Maumenee AE. Management of congenital cataracts. Ophthalmology 1979. link35361-1) 64 Blaustein DI, Dewey MM. Localization of rhodopsin in isolated, osmotically intact rod outer segment discs. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 1979. link 65 Papermaster DS, Schneider BG, Zorn MA, Kraehenbuhl JP. Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks. The Journal of cell biology 1978. link 66 Grey RH, Blach RK, Barnard WM. Bull's eye maculopathy with early cone degeneration. The British journal of ophthalmology 1977. link 67 Welch RB. Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Transactions of the American Ophthalmological Society 1977. link 68 Godel V, Regenbogen L. Unilateral retinitis pigmentosa and pit of optic disc. Archives of ophthalmology (Chicago, Ill. : 1960) 1976. link

    Original source

    1. [1]
      Stargardt Disease. — Pinheiro L, Tsang SH, Sharma T Advances in experimental medicine and biology (2025)
    2. [2]
      Cataract surgery in patients with retinitis pigmentosa: systematic review. — Khojasteh H, Riazi-Esfahani H, Mirghorbani M, Khalili Pour E, Mahmoudi A, Mahdizad Z et al. Journal of cataract and refractive surgery (2023)
    3. [3]
      Unilateral retinitis pigmentosa associated with cystoid macular oedema. — Mishra C, Sen S, Kannan NB, Ramasamy K The National medical journal of India (2023)
    4. [4]
      Research trends in the field of retinitis pigmentosa from 2002 to 2021: a 20 years bibliometric analysis. — Lin F, Xie M, Sheng X, Guo L, Jia J, Wang Y International ophthalmology (2023)
    5. [5]
      A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris. — Cehajic-Kapetanovic J, Jasani KM, Shanks M, Clouston P, MacLaren RE Ophthalmic genetics (2020)
    6. [6]
      ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave. — Johnson MA, Jeffrey BG, Messias AMV, Robson AG Documenta ophthalmologica. Advances in ophthalmology (2019)
    7. [7]
      Clyde E. Keeler: The Rodless Mouse and the Early Days of Retinal Genetic Research. — Albert DM Ophthalmology. Retina (2019)
    8. [8]
      Assessing nonsedated handheld cone flicker electroretingram as a screening test in pediatric patients: comparison to sedated conventional cone flicker electroretinogram. — Osigian CJ, Grace SF, Cavuoto KM, Feuer WJ, Tavakoli M, Saksiriwutto P et al. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus (2019)
    9. [9]
      Congenital cataracts following total parenteral nutrition (TPN) use during pregnancy. — Heerasing N, Dowling D European journal of clinical nutrition (2014)
    10. [10]
      Defective trafficking of rhodopsin and its role in retinal degenerations. — Hollingsworth TJ, Gross AK International review of cell and molecular biology (2012)
    11. [11]
      Congenital cataracts, facial dysmorphism, and neuropathy syndrome. — Tzifi F, Pons R, Athanassaki C, Poulou M, Kanavakis E Pediatric neurology (2011)
    12. [12]
      Objective visual field determination in forensic ophthalmology with an optimized 4-channel multifocal VEP perimetry system: a case report of a patient with retinitis pigmentosa. — Kaltwasser C, Horn FK, Kremers J, Juenemann A, Bergua A Documenta ophthalmologica. Advances in ophthalmology (2011)
    13. [13]
      Nitration of lysozyme by ultrasonic waves; demonstration by immunochemistry and mass spectrometry. — Dean S, Cox M, Heptinstall J, Walton DJ, Mikhailov VA, Cooper HJ et al. Ultrasonics sonochemistry (2011)
    14. [14]
      Deactivation mechanisms of rod phototransduction: the Cogan lecture. — Burns ME Investigative ophthalmology & visual science (2010)
    15. [15]
      Solid-phase synthesis of a biotin derivative and its application to the development of anti-biotin antibodies. — Papasarantos I, Klimentzou P, Koutrafouri V, Anagnostouli M, Zikos C, Paravatou-Petsotas M et al. Applied biochemistry and biotechnology (2010)
    16. [16]
      A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome). — Marmor MF Documenta ophthalmologica. Advances in ophthalmology (2006)
    17. [17]
      The Brugada ECG pattern in a neonate. — Sanatani S, Mahkseed N, Vallance H, Brugada R Journal of cardiovascular electrophysiology (2005)
    18. [18]
      The need for energy equilibrium. — Flouris AD, Klentrou P Journal of science and medicine in sport (2005)
    19. [19]
      Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations. — Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW Human mutation (2003)
    20. [20]
      Flash electroretinography in standing horses using the DTL microfiber electrode. — Komáromy AM, Andrew SE, Sapp HL, Brooks DE, Dawson WW Veterinary ophthalmology (2003)
    21. [21]
      Retinitis pigmentosa patients with sickle cell disease and dextrocardia and situs inversus syndrome. — Madhavan C, Bhende P, Gopal L, Vasanthi SB, Kumaramanickavel G Indian journal of ophthalmology (2001)
    22. [22]
      In vitro enzymatic biotinylation of recombinant fab fragments through a peptide acceptor tail. — Saviranta P, Haavisto T, Rappu P, Karp M, Lövgren T Bioconjugate chemistry (1998)
    23. [23]
      Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity? — Lorenzetti ME, Fryns JP American journal of medical genetics (1996)
    24. [24]
      Purification of the CIC-0 chloride channel from Torpedo california electroplax identification of a phosphorylation site for cAMP-dependent protein kinase. — Kehne J, Weber-Schürholz S, Meyer HE, Schürholz T Biological chemistry Hoppe-Seyler (1996)
    25. [25]
      A library of organic landscapes on filamentous phage. — Petrenko VA, Smith GP, Gong X, Quinn T Protein engineering (1996)
    26. [26]
      Study of functionality of cochlear outer hair cells in patients with retinitis pigmentosa. — Cagini C, Menduno P, Ricci G, Molini E, Pennacchi A Survey of ophthalmology (1995)
    27. [27]
      Analysis of a family of ypt genes and their products from Chlamydomonas reinhardtii. — Dietmaier W, Fabry S, Huber H, Schmitt R Gene (1995)
    28. [28]
      Differences between pattern-evoked electroretinograms obtained by a scanning laser ophthalmoscope and by a mechanical mirror system. — Horn F, Korth M Documenta ophthalmologica. Advances in ophthalmology (1994)
    29. [29]
      Sonographic diagnosis of fetal congenital cataracts. — Zimmer EZ, Bronshtein M, Ophir E, Meizner I, Auslender R, Groisman G et al. Prenatal diagnosis (1993)
    30. [30]
      Low-vision aids in Stargardt's disease. — Temel A, Kazokoğlu H Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (1991)
    31. [31]
      Setleis bitemporal "forceps marks" syndrome and its pathogenesis: a case report. — Matsumoto S, Kuno T, Hamasaki Y, Miyazaki S, Miyabara S, Narisawa Y Acta paediatrica Japonica : Overseas edition (1991)
    32. [32]
      Facial measurements in the newborn (towards syndrome delineation). — Omotade OO Journal of medical genetics (1990)
    33. [33]
      Orientation of subunit c of the ATP synthase of Escherichia coli--a study with peptide-specific antibodies. — Hensel M, Deckers-Hebestreit G, Schmid R, Altendorf K Biochimica et biophysica acta (1990)
    34. [34]
      Prevalence of tapeto-retinal dystrophies among Danish children. — Rosenberg T Documenta ophthalmologica. Advances in ophthalmology (1989)
    35. [35]
      Distribution of fatty acid binding proteins in tissues and plasma of Gallus domesticus. — Collins DM, Hargis PS Comparative biochemistry and physiology. B, Comparative biochemistry (1989)
    36. [36]
      Clinical findings and common symptoms in retinitis pigmentosa. — Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ American journal of ophthalmology (1988)
    37. [37]
      Corneal D.C. recordings of slow ocular potential changes such as the ERG c-wave and the light peak in clinical work. Equipment and examples of results. — Nilsson SE, Andersson BE Documenta ophthalmologica. Advances in ophthalmology (1988)
    38. [38]
      Grid photocoagulation for macular edema in patients with retinitis pigmentosa. — Newsome DA, Blacharski PA American journal of ophthalmology (1987)
    39. [39]
      Hanhart's syndrome with special reference to temporal bone findings. — Sekhar HK, Sachs M, Siverls VC The Annals of otology, rhinology, and laryngology (1987)
    40. [40]
      Properties, biosynthesis and processing of a sulfur-rich protein in Brazil nut (Bertholletia excelsa H.B.K.). — Sun SS, Altenbach SB, Leung FW European journal of biochemistry (1987)
    41. [41]
      Covalent flavinylation of 6-hydroxy-D-nicotine oxidase analyzed by partial deletions of the gene. — Brandsch R, Bichler V, Nagursky H European journal of biochemistry (1987)
    42. [42]
      Opsin accumulation in photoreceptor inner segment plasma membranes of dystrophic RCS rats. — Nir I, Sagie G, Papermaster DS Investigative ophthalmology & visual science (1987)
    43. [43]
      Visual function in retinitis pigmentosa. — Rabin J Journal of the American Optometric Association (1986)
    44. [44]
      A monoclonal antibody that binds to cones. — Lemmon V Investigative ophthalmology & visual science (1986)
    45. [45]
      Light and electron microscopy of S-antigen- and opsin-immunoreactive photoreceptors in the retina of turtle, chicken, and hedgehog. — van Veen T, Vigh-Teichmann I, Vigh B, Hartwig HG Experimental biology (1986)
    46. [46]
      Molecular cloning of cDNA for rat mitochondrial 3-hydroxyacyl-CoA dehydrogenase. — Amaya Y, Takiguchi M, Hashimoto T, Mori M European journal of biochemistry (1986)
    47. [47]
      Retinitis pigmentosa: immunohistochemical and biochemical studies of the retina. — Rodrigues MM, Wiggert B, T'so MO, Chader GJ Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (1986)
    48. [48]
      Immunocytochemical localization of chondroitin sulfates in the interphotoreceptor matrix of the normal and dystrophic rat retina. — Porrello K, LaVail MM Current eye research (1986)
    49. [49]
      Retinoid-binding proteins in cone-dominant retinas. — Anderson DH, Neitz J, Saari JC, Kaska DD, Fenwick J, Jacobs GH et al. Investigative ophthalmology & visual science (1986)
    50. [50]
      Electron microscopic immunocytochemistry of interstitial retinol-binding protein in vertebrate retinas. — Schneider BG, Papermaster DS, Liou GI, Fong SL, Bridges CD Investigative ophthalmology & visual science (1986)
    51. [51]
      Visual improvement with low vision aids in Stargardt's disease. — Collee CM, Jalkh AE, Weiter JJ, Friedman GR Ophthalmology (1985)
    52. [52]
      Localization of visual pigment antigens to photoreceptor cells with different oil droplets in the chicken retina. — Szél A, Röhlich P Acta biologica Hungarica (1985)
    53. [53]
      Immunocytochemical localization of interphotoreceptor retinoid-binding protein in developing normal and RCS rat retinas. — Eisenfeld AJ, Bunt-Milam AH, Saari JC Investigative ophthalmology & visual science (1985)
    54. [54]
      Isolation of a cDNA clone for a catalytic subunit of Torpedo marmorata acetylcholinesterase. — Sikorav JL, Vallette F, Grassi J, Massoulié J FEBS letters (1985)
    55. [55]
      Synthesis of the alpha and beta subunits of coupling factor 1 by polysomes from pea chloroplasts. — Bhaya D, Jagendorf AT Archives of biochemistry and biophysics (1985)
    56. [56]
      Human rhodopsin measurement using a T.V.-based imaging fundus reflectometer. — Faulkner DJ, Kemp CM Vision research (1984)
    57. [57]
      Synthesis of photosynthetic membrane proteins directed by RNA from rough thylakoids of Chlamydomonas reinhardtii. — Margulies MM European journal of biochemistry (1983)
    58. [58]
      Stargardt's type macular dystrophy associated with retinitis pigmentosa. — Charney RE, Kraushar MF, Appel N Annals of ophthalmology (1982)
    59. [59]
      Isolation and preliminary characterization of clathrin-associated proteins. — Lisanti MP, Shapiro LS, Moskowitz N, Hua EL, Puszkin S, Schook W European journal of biochemistry (1982)
    60. [60]
      A comparative study of low-vision patients: Their ocular disease and preference for one specific series of light transmission filters. — Hoeft WW, Hughes MK American journal of optometry and physiological optics (1981)
    61. [61]
      Quantitative evaluation of the electroretinogram. — van Lith G Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde (1981)
    62. [62]
      Rubella infection and other factors associated with congenital cataracts in Cape Town. — Kipps A, Sevel D, McIntyre J South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde (1979)
    63. [63]
      Management of congenital cataracts. — Stark WJ, Taylor HR, Michels RG, Maumenee AE Ophthalmology (1979)
    64. [64]
      Localization of rhodopsin in isolated, osmotically intact rod outer segment discs. — Blaustein DI, Dewey MM The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society (1979)
    65. [65]
      Immunocytochemical localization of a large intrinsic membrane protein to the incisures and margins of frog rod outer segment disks. — Papermaster DS, Schneider BG, Zorn MA, Kraehenbuhl JP The Journal of cell biology (1978)
    66. [66]
      Bull's eye maculopathy with early cone degeneration. — Grey RH, Blach RK, Barnard WM The British journal of ophthalmology (1977)
    67. [67]
      Bietti's tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. — Welch RB Transactions of the American Ophthalmological Society (1977)
    68. [68]
      Unilateral retinitis pigmentosa and pit of optic disc. — Godel V, Regenbogen L Archives of ophthalmology (Chicago, Ill. : 1960) (1976)
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