Nanophthalmos: A Review of the Clinical Spectrum and Genetics

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.