It is usually autosomal recessive; however, importantly for family planning, it is sometimes autosomal dominant. It is a disorder thought to be caused by abnormal development of photoreceptor cells. OMIM currently recognizes 18 types of<unk> . Type OMIM Gene Locus<unk> 1 GUCY2D, 17p13.1<unk> 2 RPE65 1p31.3-p31.2<unk> 3 SPATA7 14q31.3<unk> 4 AIPL1 17p13.2<unk> 5<unk> 5 6q14.1<unk> 6 RPGRIP1 14q11.2<unk> 7 CRX 19q13.3<unk> 8 CRB1 1q31-q32.1<unk> 9 NMNAT1 1p36.22<unk> 10 CEP290 12q21.32<unk> 11 IMPDH1 7q32.1<unk> 12 RD3 7q32.1<unk> 13 RDH12 1q32.3<unk> 14 LRAT 14q24.1<unk> 15 TULP1 4q31<unk> 16 KCNJ13 2q37<unk> 17 GDF6 8q22<unk> 18 PRPH2 6p21 The gene has been associated with Joubert syndrome, as well as type 10<unk> .
Leber congenital amaurosis
Norrie disease
Cystic eyeball
Lafora disease
Ocular albinism
Ocular albinism type 1
Karak syndrome
Batten disease