Rare genetic isolated progressive…

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Rare genetic isolated progressive generalized retinal disorder

ORPHA:717324Category

Also called Non-syndromic inherited retinal dystrophy · Non-syndromic IRD

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

ABCA4ADAM9AGBL5AHI1AHRAIPL1ALMS1ARHGEF18ARL2BPARL3ARL6ATF6BBS1BBS2BEST1C1QTNF5CA4CABP4CACNA1FCACNA2D4CC2D2ACDHR1CEP290CERKLCFAP20CFAP410CFAP418CLRN1CNGA1CNGA3CNGB1CNGB3COQ8BCRB1CRXDHDDSDHX38DRAM2ELOVL4EYSFAM161AFSCN2FSD1LGDF6GNAT2GUCA1AGUCA1BGUCY2DHGSNATHKDC1IDH3AIDH3BIFT140IFT172IFT43IFT88IMPDH1IMPG1IMPG2IQCB1ITM2BKCNJ13KCNV2KIAA1549KIZKLHL7LCA5LRATMAKMERTKMFSD8NEK2NMNAT1NR2E3NRLOFD1OPN1LWOPN1MWOTX2PCAREPCYT1APDE6APDE6BPDE6CPDE6GPITPNM3POC1BPOMGNT1PRCDPROM1PRPF3PRPF31PRPF4PRPF6PRPF8PRPH2RAB28RAX2RBP3RBP4RD3RDH12RDH5REEP6RGRRHORIMS1RLBP1RNU4-2RNU6-1RNU6-2RNU6-8RNU6-9ROM1RP1RP1L1RP2RP9RPE65RPGRRPGRIP1SAGSAXO6SCAPERSEMA4ASLC7A14SNRNP200SPATA7TLCD3BTMEM216TOPORSTTC8TTLL5TUBTUBB4BTULP1UBAP1LUNC119USH2AUSP45ZNF408ZNF513

Orphanet records these genes on 15 more specific entries under this disorder, not on this entry itself:

Autosomal recessive bestrophinopathyBothnia retinal dystrophyCone dystrophy with supernormal rod responseCone rod dystrophyGoldmann-Favre syndromeLate-onset retinal degenerationLeber congenital amaurosisOccult macular dystrophyProgressive cone dystrophyProgressive retinal dystrophy due to retinol transport defectRetinal dystrophy with inner retinal dysfunction and ganglion cell anomaliesRetinitis pigmentosaRetinitis punctata albescensSevere early-childhood-onset retinal dystrophyStargardt disease

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.

Get started freeSee how Eleplan works →