Eye Diseases And Genetics Under Investigation

Dr. Kisling Eye Diseases, Uncategorized Leave a Comment

Eye Diseases With Genetic Links Number Over 500

In 2006 the  National Ophthalmic Disease Genotyping Network (eyeGENE®) database was initially setup in conjunction with an National Eye Health initiative  to encourage the development of knowledge about testing and treatment of genetically related eye diseases. Over 500 eye disorders have been identified with genetic components and the number is growing.  While still in its infancy, the future of genomics (the study of genes) has a bright future in preventing and treating eye diseases.

Eye Problems With Genetic Component Under Investigation

Aniridia and other developmental eye anomalies: PAX6, WT1, DCDC1, ELP4
Axenfeld – Rieger Syndrome: PITX2, FOXC1
Best Disease VMD2Bietti’s Crystalline Corneo-Retinal Dystrophy: CYP4V2
Choroideremia: CHM
Chronic Progressive External Ophthalmoplegia (CPEO)/Kearns-Sayre Syndrome (KSS): Mitochondrial gene panel
Cone Rod Dystrophy: ABCA4, RPGR, CRX
Congenital Cranial Dysinnervation Diseases: (CCDD) KIF21A, CHN, SALL4, TUBB3
Congenital Stationary Night Blindness:  RHO, PDE6B
Corneal Dystrophy: TGFBI, KRT3, KRT12
Doyne Honeycomb Dystrophy: EFEMP1
Familial Exudative Vitreal Retinopathy: FZD4, LRP5, NDP
Glaucoma: CYP1B1, OPTN, MYOC
Hermansky-Pudlak Syndrome: HPS1, HPS3
Infantile Neuroaxonal Dystrophy: (INAD) PLA2G6
Juvenile X-linked Retinoschisis: RS1 (XLRS1)
Leber Hereditary Optic Neuropathy (LHON): ND4, ND1, ND6
Lowe Syndrome: OCRL
Microphthalmia and Anophthalmia: SIX6, SOX2, OTX2, VSX2
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes: (MELAS) Mitochondrial gene panel
Myoclonis Epilepsy associated with Ragged Red Fibers (MERRF): Mitochondrial gene panel
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP): Mitochondrial gene panel
Optic Atrophy Type 1: OPA1
Pantothenate Kinase-associated Neuropathy (PKAN): PANK2
Pattern Dystrophy: RDS
Retinitis Pigmentosa (RP) and Retinal Degenerations: ABCA4, RHO, RDS, IMPDH1, PRPF31, PRPF3, RP1, PRPF8, NR2E3, TOPORS, RPGR, RP2, CRB1, C1QTNF5/ CTRP5, PDE6A, PDE6B, RPE65, CA4, USH2A, EYS, KLHL7
Retinoblastoma: RB1
Sorsby Fundus Dystrophy: TIMP3
Stargardt Disease: ABCA4, ELOVL4
X-linked Ocular Albinism:  GPR143 (OA1

The Future Of The Human Genome And Eye Disease Treatments

The future holds hope for many conditions that have not been amendable to treatment in the past. Someday, thinking about treating eye diseases and preventing blindness without gene therapy will be analogous to treating infections without penicillin (or today’s version of Zithromax).

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