Table 3.
Genes and phenotypes in nanophthalmos.
| Gene (locus) | OMIM | Location | Inheritance | Gene expression (localization) | Gene function | Phenotypic characteristics of mutations |
|---|---|---|---|---|---|---|
| MFRP (NNO2) | 606227 | 11q23.3 | AR | RPE/CB (transmembrane) | Wnt signalling pathway effector | (i) Nanopthalmos, high hyperopia, and angle-closure glaucoma (ii) Retinitis pigmentosa, foveoschisis, and optic disc drusen syndrome |
|
| ||||||
| TMEM98 (NNO4) | 615949 | 17q11.2 | AD | RPE/CB/sclera (transmembrane) | Unknown | (i) High hyperopia, angle-closure glaucoma, and increased optic disc drusen |
|
| ||||||
| PRSS56 (MCOP6) | 613858 | 2q37.1 | AR | Retina/sclera (cytoplasmic) | Serine protease | (i) Nanophthalmos, angle-closure glaucoma, and high hyperopia (ii) Posterior microphthalmia |
|
| ||||||
| CRB1 | 604210 | 1q31.3 | AR | Retina (transmembrane) | Controls cell polarity | (i) Nanophthalmos and retinitis pigmentosa (ii) Leber congenital amaurosis 8 (iii) Pigmented paravenous chorioretinal atrophy (iv) Retinitis pigmentosa |
|
| ||||||
| Best1/VMD2 | 607854 | 11q12 | AD or AR | RPE/CB (transmembrane) | Chloride channel | (i) ADVIRC: autosomal-dominant vitreoretinochoroidopathy with nanophthalmos (ii) ARB: autosomal-recessive bestrophinopathy (iii) BVMD: best vitelliform macular dystrophy |
|
| ||||||
| Unknown (NNO3) | 611897 | 2q11-q14 | AD | (i) Microphthalmia, microcornea, and high hyperopia | ||
|
| ||||||
| Unknown (NNO1) | 600165 | 11p12-11q13 | AD | (i) High hyperopia, high lens/eye volume ratio, and angle-closure glaucoma | ||
RPE: retinal pigment epithelium; CB: ciliary body.