Table 3.
Medically or surgically actionable genes in inherited eye diseases.
| Phenotype | Phenotypic MIM |
MIM Gene | Genes | Inheritance | Ophthalmic Phenotype |
Medical or Surgical Action |
|---|---|---|---|---|---|---|
| Abetalipoproteinemia | 200100 | 157147 | MTTP | AR | Pigmentary retinal degeneration | Vitamin A and E supplement |
| Ataxia with isolated vitamin E deficiency | 277460 | 600415 | TTPA | AR | Pigmentary retinal degeneration | Treatment with vitamin E |
| Blepharophimosis-Ptosis-Epichantus Inversus syndrome | 110100 | 605597 | FOXL2 | AD | Blepharophimosis, ptosis, epicanthus inversus | Refer to endocrinologist for premature ovarian failure |
| Cerebrotendinous xanthomatosis | 213700 | 606530 | CYP27A1 | AR | Congenital cataract | Chenodeoxycholic acid and statins |
| Congenital Cataracts | 613763 | 123590 | CRYAB | AD | Congenital cataract | Dilated cardiomyopathy screening |
| Congenital Cataracts | 607330 | 601637 | CYP51A1 | Congenital cataract | Check sterol profiling | |
| Episodic ataxia type 2 | 108500 | 601011 | CACNA1A | AD | Episodic nystagmus | Acetazolamide for ameliorating nystagmus |
| Familial exudative vitreoretinopathy | 133780 | 603506 | LRP5 | AD | Temporal retinal dragging | Refer to endocrinologist to monitor bone mineral density |
| Galactokinase deficiency | 230200 | 604313 | GALK1 | AR | Congenital cataract | Restriction of lactose and galactose intake |
| Hyperferritinemia-cataract syndrome | 600886 | 134790 | FTL | AD | Congenital cataract | Avoid unnecessary repeated phlebotomy |
| Knobloch syndrome | 267750 | 120328 | COL18A1 | AD | High myopia | Brain MRI to detect occipital encephalocele |
| Lathosterolosis | NA | 602286 | SCD5 | AR | Congenital cataract | Cholesterol reducing agent Ultrasound monitoring of the liver Liver transplant may be required |
| Leber congenital amaurosis | 204100 | 180069 | RPE65 | AR | Nystagmus Retinal degeneration |
Gene therapy (voretigene neparvovec-rzyl) |
| Pyruvate dehydrogenase E1-α deficiency |
312170 | 300502 | PDHA1 | XL | Optic atrophy Strabismus |
Ketogenic diet Thiamine treatment |
| Refsum Disease | 266500 | 602026 601757 |
PHYH, PEX7 |
AR | Pigmentary retinal degeneration | Diet free of phytol, phytanic acid, or their precursor, or plasmapheresis |
| Retinoblastoma | 180200 | 614041 | RB1 | AD | Intraocular tumor | Serial detail examination of fundus |
| Stickler syndrome type I |
108300 | 120140 | COL2A1 | AD | High myopia Vitreoretinal degeneration |
Prophylactic cryotherapy to prevent retinal detachment |
| Stomatin-deficient Cryohydrocytosis |
608885 | 138140 | SLC2A1 | AD | Congenital cataract | Ketogenic diet |
AD, autosomal dominant; AR, autosomal recessive; MIM, mendelian inheritance in man; NA, not available; XL, X-linked.