Genes & Eye Diseases: High-Yield List by Chromosome
Last updated: October 2026
Inherited eye diseases and their genes, arranged by chromosome for exam revision, with a high-yield summary first. AD = autosomal dominant, AR = autosomal recessive, XL = X-linked.
The 25 most-asked gene facts
| Condition | Gene (chromosome) | Inheritance |
|---|---|---|
| Retinoblastoma | RB1 (13q14) | AD (heritable form) |
| Aniridia, Peters anomaly | PAX6 (11p13); WAGR adds WT1 | AD |
| Primary congenital glaucoma | CYP1B1 (2p22) | AR |
| Juvenile open-angle glaucoma | MYOC (1q24) | AD |
| Normal-tension glaucoma | OPTN (10p13), TBK1 | AD |
| Axenfeld–Rieger syndrome | PITX2 (4q25), FOXC1 (6p25) | AD |
| TGFBI dystrophies (Reis–Bücklers, Thiel–Behnke, granular, lattice 1, Avellino) | TGFBI (5q31) | AD |
| Macular corneal dystrophy | CHST6 (16q22) | AR |
| Late-onset Fuchs dystrophy | TCF4 CTG repeat (18q21) | AD |
| Stargardt disease | ABCA4 (1p22) | AR |
| Best disease | BEST1 (11q12) | AD |
| Retinitis pigmentosa | RHO (3q22, AD); RPGR (Xp11, XL); USH2A (1q41, AR) | All three |
| Leber congenital amaurosis | RPE65 (1p31): first gene therapy (voretigene) | AR |
| Leber hereditary optic neuropathy | mtDNA 11778 (ND4), 3460, 14484 | Maternal |
| Dominant optic atrophy (Kjer) | OPA1 (3q29) | AD |
| X-linked retinoschisis | RS1 (Xp22) | XL |
| Choroideremia | CHM / REP1 (Xq21) | XL |
| Norrie disease, X-linked FEVR | NDP (Xp11) | XL |
| Gyrate atrophy | OAT (10q26) | AR |
| Von Hippel–Lindau | VHL (3p25) | AD |
| Neurofibromatosis 1 / 2 | NF1 (17q11) / NF2 (22q12) | AD |
| Marfan syndrome | FBN1 (15q21) | AD |
| Homocystinuria | CBS (21q22) | AR |
| Albinism | TYR (11q, OCA1), OCA2 (15q), GPR143 (Xp22, ocular) | AR / XL |
| Sorsby fundus dystrophy | TIMP3 (22q12) | AD |
By chromosome
| Chr | Condition | Gene | Inheritance |
|---|---|---|---|
| 1 | Early-onset Fuchs dystrophy; PPCD2 | COL8A2 | AD |
| Stickler type 2 | COL11A1 | AD | |
| Gelatinous drop-like dystrophy | TACSTD2 | AR | |
| Schnyder corneal dystrophy | UBIAD1 | AD | |
| Ehlers–Danlos (kyphoscoliotic) | PLOD1 | AR | |
| Juvenile open-angle glaucoma | MYOC | AD | |
| Stargardt disease | ABCA4 | AR | |
| AMD risk | CFH (Y402H) | Complex | |
| Usher syndrome type 2 | USH2A | AR | |
| Chédiak–Higashi syndrome | LYST | AR | |
| Leber congenital amaurosis | RPE65 | AR | |
| 2 | Primary congenital glaucoma | CYP1B1 | AR |
| Oguchi disease | SAG (arrestin) | AR | |
| Alström syndrome | ALMS1 | AR | |
| Doyne honeycomb / Malattia Leventinese | EFEMP1 | AD | |
| Fleck corneal dystrophy | PIKFYVE | AD | |
| 3 | Blepharophimosis (BPES types 1 and 2) | FOXL2 | AD |
| Von Hippel–Lindau | VHL | AD | |
| Retinitis pigmentosa | RHO | AD | |
| Alkaptonuria (ochronosis) | HGD | AR | |
| Dominant optic atrophy | OPA1 | AD | |
| 4 | Axenfeld–Rieger | PITX2 | AD |
| Congenital stationary night blindness (Rambusch) | PDE6B | AD | |
| Wolfram (DIDMOAD) | WFS1 | AR | |
| Hurler syndrome | IDUA | AR | |
| Bietti crystalline dystrophy | CYP4V2 | AR | |
| Fraser (cryptophthalmos) syndrome | FRAS1 | AR | |
| 5 | Treacher Collins syndrome | TCOF1 | AD (60% new mutations) |
| TGFBI corneal dystrophies | TGFBI | AD | |
| Cri du chat | 5p deletion | Sporadic | |
| 6 | Adult vitelliform and pattern dystrophy | PRPH2 (RDS) | AD |
| Axenfeld–Rieger | FOXC1 | AD | |
| 7 | Retinitis pigmentosa (RP10) | IMPDH1 | AD |
| 9 | Lattice type 2 (Meretoja, gelsolin amyloidosis) | GSN | AD |
| Galactosaemia | GALT | AR | |
| Gorlin (naevoid BCC) syndrome | PTCH1 | AD | |
| Familial dysautonomia (Riley–Day) | ELP1 | AR | |
| 10 | Crouzon syndrome | FGFR2 | AD |
| MEN 2B | RET | AD | |
| Gyrate atrophy | OAT | AR | |
| Normal-tension glaucoma | OPTN | AD | |
| Renal–coloboma syndrome | PAX2 | AD | |
| Posterior polar cataract | PITX3 | AD | |
| 11 | Aniridia, Peters anomaly | PAX6 | AD |
| Nanophthalmos | MFRP, NNO1 locus | AD / AR | |
| Best disease | BEST1 | AD | |
| Familial exudative vitreoretinopathy | FZD4, LRP5 | AD | |
| Oculocutaneous albinism 1 | TYR | AR | |
| CFEOM2 | PHOX2A | AR | |
| 12 | Stickler type 1 | COL2A1 | AD |
| CFEOM1 | KIF21A | AD | |
| Cornea plana 2 | KERA | AR | |
| Congenital stromal dystrophy | DCN | AD | |
| Meesmann dystrophy | KRT3 | AD | |
| Fundus albipunctatus | RDH5 | AR | |
| 13 | Retinoblastoma | RB1 | AD |
| Oguchi disease | GRK1 (rhodopsin kinase) | AR | |
| Patau syndrome (trisomy 13) | Trisomy | Sporadic | |
| 14 | Oculopharyngeal muscular dystrophy | PABPN1 | AD |
| 15 | Marfan syndrome | FBN1 | AD |
| Oculocutaneous albinism 2 | OCA2 | AR | |
| 16 | Macular corneal dystrophy | CHST6 | AR |
| Pseudoxanthoma elasticum | ABCC6 | AR | |
| Fish-eye disease | LCAT | AR | |
| Tyrosinaemia type II | TAT | AR | |
| CFEOM3 | TUBB3 | AD | |
| 17 | Meesmann dystrophy | KRT12 | AD |
| Neurofibromatosis 1 | NF1 | AD | |
| Cystinosis | CTNS | AR | |
| 18 | Late-onset Fuchs dystrophy | TCF4 | AD |
| Transthyretin amyloidosis | TTR | AD | |
| Edwards syndrome (trisomy 18) | Trisomy | Sporadic | |
| 19 | Cone–rod dystrophy, LCA | CRX | AD |
| 20 | Posterior polymorphous dystrophy 1 | OVOL2 | AD |
| Congenital hereditary endothelial dystrophy | SLC4A11 | AR | |
| 21 | Homocystinuria | CBS | AR |
| Down syndrome (trisomy 21) | Trisomy | Sporadic | |
| 22 | Neurofibromatosis 2 | NF2 | AD |
| Sorsby fundus dystrophy | TIMP3 | AD | |
| X | Retinitis pigmentosa | RPGR, RP2 | XL |
| X-linked retinoschisis | RS1 | XL | |
| Choroideremia | CHM | XL | |
| Norrie disease, X-linked FEVR | NDP | XL | |
| Ocular albinism | GPR143 | XL | |
| CSNB (complete / incomplete) | NYX / CACNA1F | XL | |
| Blue cone monochromacy | OPN1LW / OPN1MW | XL | |
| Red-green colour deficiency | OPN1LW / OPN1MW | XL | |
| X-linked megalocornea | CHRDL1 | XL | |
| Fabry disease | GLA | XL | |
| Lowe syndrome | OCRL | XL recessive | |
| Alport syndrome (X-linked form) | COL4A5 | XL | |
| Incontinentia pigmenti | IKBKG (NEMO) | XL dominant (lethal in males) | |
| Aicardi syndrome | Unknown | XL dominant (girls) | |
| X-linked ichthyosis | STS | XL recessive | |
| Mito | LHON | MT-ND4, MT-ND1, MT-ND6 | Maternal |
| CPEO, Kearns–Sayre | mtDNA deletions | Usually sporadic |
Coats disease is not inherited; somatic NDP mutations have been found in some eyes. Thiel–Behnke dystrophy was first mapped to chromosome 10 but is caused by TGFBI on chromosome 5.
Where residents slip
- Putting both Meesmann genes on one chromosome: KRT3 is on 12, KRT12 on 17.
- Calling LHON X-linked because men are affected more: it is mitochondrial (maternal).
- Forgetting WAGR: sporadic aniridia needs screening for Wilms tumour.
Related: Corneal dystrophies made easy, Electrophysiology made easy, Retinoblastoma genetics, Eye embryology made easy.
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📘 Want the exam-ready deep dive? This topic, and much more is covered in Ophthalmology Explorer (A High-Yield Clinical Reference for Ophthalmology Residents, Fellows & Board Exams) — available on Kindle. See all my books.
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