Congenital Anomalies of the Retina

oftalmoloji-17-2-kapak-wosonayiyok

Murat KARAÇORLUa , Mümin HOCAOĞLUa

aİstanbul Retina Institute, İstanbul, Türkiye

ABSTRACT
This chapter summarizes recent published literature of congenital retinal anomalies. Congenital anomalies of the retina describe a variety of conditions or abnormalities affecting the retina with clinical and genetic heterogeneity, which are present from birth. Some retinal lesions are found incidentally during a routine ophthalmoscopic evaluation, and are rarely symptomatic and generally non-progressive. On the other hand, some congenital diseases and conditions alter the structure and function of the retina, resulting in severe visual impairment and permanent blindness. They may present in isolation or be associated with other systemic diseases and syndromes.
Keywords: Congenital; retinal dystrophies; retinal diseases

Referanslar

  1. Altintas Koçak AG. Chorioretinal coloboma: clinical presentation complications and treatment alternatives. Adv Ophthalmol Vis Syst. 2019;9(4):106-8. [Crossref]
  2. Venincasa VD, Modi YS, Aziz HA, Ayres B, Zehetner C, Shi W, et al. Clinical and Echographic Features of Retinochoroidal and Optic Nerve Colobomas. Invest Ophthalmol Vis Sci. 2015;56(6):3615-20. [Crossref]  [PubMed]  [PMC]
  3. Hocaoglu M, Karacorlu M, Ersoz MG, Sayman Muslubas I, Arf S. Outcomes of Vitrectomy with Silicone Oil Tamponade for Management of Retinal Detachment In Eyes With Chorioretinal Coloboma. Retina. 2019;39(4):736-42. [Crossref]  [PubMed]
  4. Rao R, Turkoglu EB, Say EAT, Shields CL. Clinical Features, Imaging, And Natural History of Myelinated Retinal Nerve Fiber Layer. Retina. 2019;39(6):1125-32. [Crossref]  [PubMed]
  5. Ramkumar HL, Verma R, Ferreyra HA, Robbins SL. Myelinated Retinal Nerve Fiber Layer (RNFL): A Comprehensive Review. Int Ophthalmol Clin. 2018; 58(4):147-56. [Crossref]  [PubMed]
  6. Thomas MG, Zippin J, Brooks BP. Oculocutaneous Albinism and Ocular Albinism Overview. 2023 Apr 13. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. [Link]
  7. Thomas MG, Kumar A, Mohammad S, Proudlock FA, Engle EC, Andrews C, et al. Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity? Ophthalmology. 2011;118(8):1653-60. Erratum in: Ophthalmology. 2011;118(10):1910. [Crossref]  [PubMed]  [PMC]
  8. Kondo H. Foveal hypoplasia and optical coherence tomographic imaging. Taiwan J Ophthalmol. 2018;8(4):181-8. [Crossref]  [PubMed]  [PMC]
  9. Huang CH, Yang CM, Yang CH, Hou YC, Chen TC. Leber's Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations. Genes (Basel). 2021;12(8):1261. [Crossref]  [PubMed]  [PMC]
  10. Jacobson SG, Cideciyan AV, Huang WC, Sumaroka A, Nam HJ, Sheplock R, et al. Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. Adv Exp Med Biol. 2016;854:169-75. [Crossref]  [PubMed]
  11. Testa F, Maguire AM, Rossi S, Pierce EA, Melillo P, Marshall K, et al. Three-year follow-up after unilateral subretinal delivery of adeno-associated virus in patients with Leber congenital Amaurosis type 2. Ophthalmology. 2013; 120(6):1283-91. [Crossref]  [PubMed]  [PMC]
  12. Padhy SK, Takkar B, Narayanan R, Venkatesh P, Jalali S. Voretigene Neparvovec and Gene Therapy for Leber's Congenital Amaurosis: Review of Evidence to Date. Appl Clin Genet. 2020;13:179-208. [Crossref]  [PubMed]  [PMC]
  13. McKyton A, Marks Ohana D, Nahmany E, Banin E, Levin N. Seeing color following gene augmentation therapy in achromatopsia. Curr Biol. 2023;33(16):3489-94.e2. [Crossref]  [PubMed]
  14. Hirji N, Aboshiha J, Georgiou M, Bainbridge J, Michaelides M. Achromatopsia: clinical features, molecular genetics, animal models and therapeutic options. Ophthalmic Genet. 2018;39(2):149-57. [Crossref]  [PubMed]
  15. Greenberg JP, Sherman J, Zweifel SA, Chen RW, Duncker T, Kohl S, et al. Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia. JAMA Ophthalmol. 2014;132(4):437-45. [Crossref]  [PubMed]  [PMC]
  16. Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, et al. Congenital Stationary Night Blindness: Clinical and Genetic Features. Int J Mol Sci. 2022;23(23):14965. [Crossref]  [PubMed]  [PMC]
  17. Tsang SH, Sharma T. Congenital Stationary Night Blindness. Adv Exp Med Biol. 2018;1085:61-4. [Crossref]  [PubMed]
  18. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969;68(4):578-94. [Crossref]  [PubMed]
  19. Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015;29(1):1-14. [Crossref]  [PubMed]  [PMC]
  20. Hocaoglu M, Karacorlu M, Sayman Muslubas I, Ersoz MG, Arf S. Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. Br J Ophthalmol. 2017; 101(7):946-50. [Crossref]  [PubMed]
  21. Khandwala N, Besirli C, Bohnsack BL. Outcomes and surgical management of persistent fetal vasculature. BMJ Open Ophthalmol. 2021;6(1):e000656. [Crossref]  [PubMed]  [PMC]
  22. Karacorlu M, Hocaoglu M, Sayman Muslubas I, Arf S, Ersoz MG, Uysal O. Functional and anatomical outcomes following surgical management of persistent fetal vasculature: a single-center experience of 44 cases. Graefes Arch Clin Exp Ophthalmol. 2018;256(3):495-501. [Crossref]  [PubMed]
  23. Drenser KA, Fecko A, Dailey W, Trese MT. A characteristic phenotypic retinal appearance in Norrie disease. Retina. 2007;27(2):243-6. [Crossref]  [PubMed]
  24. Minić S, Obradović M, Kovacević I, Trpinac D. Ocular anomalies in incontinentia pigmenti: literature review and meta-analysis. Srp Arh Celok Lek. 2010;138(7-8):408-13. [Crossref]  [PubMed]
  25. Swinney CC, Han DP, Karth PA. Incontinentia Pigmenti: A Comprehensive Review and Update. Ophthalmic Surg Lasers Imaging Retina. 2015; 46(6):650-7. [Crossref]  [PubMed]
  26. So JM, Mishra C, Holman RE. Wyburn-Mason Syndrome. [Updated 2023 Jun 26]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023
  27. Schmidt D, Pache M, Schumacher M. The congenital unilateral retinocephalic vascular malformation syndrome (bonnet-dechaume-blanc syndrome or wyburn-mason syndrome): review of the literature. Surv Ophthalmol. 2008;53(3):227-49. Erratum in: Surv Ophthalmol. 2009;54(1):165. [Crossref]  [PubMed]
  28. Callahan AB, Skondra D, Krzystolik M, Yonekawa Y, Eliott D. Wyburn-Mason Syndrome Associated With Cutaneous Reactive Angiomatosis and Central Retinal Vein Occlusion. Ophthalmic Surg Lasers Imaging Retina. 2015; 46(7):760-2. [Crossref]  [PubMed]
  29. Brown GC, Donoso LA, Magargal LE, Goldberg RE, Sarin LK. Congenital retinal macrovessels. Arch Ophthalmol. 1982;100(9):1430-6. [Crossref]  [PubMed]
  30. Jager RD, Timothy NH, Coney JM, Katalinic P, Cavicchi RW, Strong J, et al. Congenital retinal macrovessel. Retina. 2005;25(4):538-40. [Crossref]  [PubMed]
  31. Ipek SC, Kavukcu S, Men S, Saatci AO. Multimodal imaging features of a spontaneously resolved unilateral congenital macrovessel-related macular edema in a 13-year-old boy. GMS Ophthalmol Cases. 2020;10:Doc40. [Crossref]
  32. de Campos VS, Calaza KC, Adesse D. Implications of TORCH Diseases in Retinal Development-Special Focus on Congenital Toxoplasmosis. Front Cell Infect Microbiol. 2020;10:585727. [Crossref]  [PubMed]  [PMC]
  33. Koundanya VV, Tripathy K. Syphilis Ocular Manifestations. [Updated 2023 Aug 25]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 [Link]
  34. Liu Y, Moore AT. Congenital focal abnormalities of the retina and retinal pigment epithelium. Eye (Lond). 2020;34(11):1973-88. [Crossref]  [PubMed]  [PMC]
  35. Shields JA, Shields CL, Shah PG, Pastore DJ, Imperiale SM Jr. Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology. 1992;99(11):1709-13. [Crossref]  [PubMed]
  36. Shields CL, Guzman JM, Shapiro MJ, Fogel LE, Shields JA. Torpedo maculopathy at the site of the fetal "bulge". Arch Ophthalmol. 2010;128(4):499-501. [Crossref]  [PubMed]
  37. Rigotti M, Babighian S, Carcereri De Prati E, Marchini G. Three cases of a rare congenital abnormality of the retinal pigment epithelium: torpedo maculopathy. Ophthalmologica. 2002;216(3):226-7. [Crossref]  [PubMed]
  38. Trevino R, Kiani S, Raveendranathan P. The expanding clinical spectrum of torpedo maculopathy. Optom Vis Sci. 2014;91(4 Suppl 1):S71-8. [Crossref]  [PubMed]
  39. Papastefanou VP, Vázquez-Alfageme C, Keane PA, Sagoo MS. Multimodality Imaging Of Torpedo Maculopathy With Swept-Source, En Face Optical Coherence Tomography And Optical Coherence Tomography Angiography. Retin Cases Brief Rep. 2018;12(2):153-7. [Crossref]  [PubMed]
  40. Gass JD. An unusual hamartoma of the pigment epithelium and retina simulating choroidal melanoma and retinoblastoma. Trans Am Ophthalmol Soc. 1973;71:171-83; discussions 184-5.
  41. Arrigo A, Corbelli E, Aragona E, Manitto MP, Martina E, Bandello F, et al. optical coherence tomography and optical coherence tomography angiography evaluation of combined hamartoma of the retina and retinal pigment epithelium. Retina. 2019;39(5):1009-15. [Crossref]  [PubMed]
  42. Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol. 2001;85(4):420-3. [Crossref]  [PubMed]  [PMC]
  43. Shields CL, Say EAT, Fuller T, Arora S, Samara WA, Shields JA. Retinal Astrocytic Hamartoma Arises in Nerve Fiber Layer and Shows "Moth-Eaten" Optically Empty Spaces on Optical Coherence Tomography. Ophthalmology. 2016;123(8):1809-16. [Crossref]  [PubMed]
  44. Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, et al. RETINAL ASTROCYTIC HAMARTOMA: Optical Coherence Tomography Classification and Correlation With Tuberous Sclerosis Complex. Retina. 2016; 36(6):1199-208. [Crossref]  [PubMed]
  45. Shields JA, Eagle RC Jr, Shields CL, Marr BP. Aggressive retinal astrocytomas in four patients with tuberous sclerosis complex. Trans Am Ophthalmol Soc. 2004;102:139-47; discussion 147-8.
  46. Zimmer-Galler IE, Robertson DM. Long-term observation of retinal lesions in tuberous sclerosis. Am J Ophthalmol. 1995;119(3):318-24. [Crossref]  [PubMed]