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Condition report · Ophthalmological
A group of inherited eye diseases characterized by the progressive degeneration of the retina, leading to severe vision impairment and eventual blindness, often with characteristic pigment deposits.
A condition report looks for rare variants known to cause the conditions it covers.
A retinopathy caused by variants in the X-linked gene, RP2.
Genes analysed
Also known as
retinitis pigmentosa 2; retinitis pigmentosa caused by mutation in RP2; retinitis pigmentosa type 2; RP2; RP2 retinitis pigmentosa; RP2 retinopathy
An inherited retinopathy caused by bi-allelic variants in the IDH3B gene.
Genes analysed
Any retinopathy caused by variants in the REEP6 gene.
Genes analysed
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
Genes analysed
Also known as
pericentral pigmentary retinopathy; Rod-cone dystrophy
A retinal dystrophy caused by changes in the RHO gene, the most common cause of dominant retinitis pigmentosa.
Genes analysed
X-linked recessive
A retinal dystrophy caused by changes in the RPGR gene, the most common cause of X-linked retinitis pigmentosa.
Genes analysed
Also known as
choroidoretinal degeneration with retinal reflex in heterozygous women; COD1; cone dystrophy X-linked 1; cone-rod degeneration, X-linked; cone-rod dystrophy X-linked 1; X-linked cone-rod dystrophy type 1; CORDX1; macular degeneration, X-linked atrophic; retinal ciliopathy due to mutation in the RPGR gene; retinitis pigmentosa 15; retinitis pigmentosa 3; retinitis pigmentosa caused by mutation in RPGR; retinitis pigmentosa type 3; RP3; RPGR retinitis pigmentosa; RPGR retinopathy; RPGR-related retinopathy with or without sino-oto-pulmonary symptoms
Autosomal dominant
A retinal dystrophy caused by changes in the PRPF31 gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the EYS gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the RP1 gene.
Genes analysed
Autosomal dominant
A retinal dystrophy caused by changes in the RP1 gene.
Genes analysed
Autosomal dominant
A retinal dystrophy caused by changes in the PRPF8 gene.
Genes analysed
Autosomal dominant
A retinal dystrophy caused by changes in the SNRNP200 gene.
Genes analysed
Also known as
retinitis pigmentosa 33; retinitis pigmentosa caused by mutation in SNRNP200; retinitis pigmentosa type 33; RP 33; RP33; SNRNP200 retinitis pigmentosa
Autosomal dominant
A retinal dystrophy caused by changes in the IMPDH1 gene.
Genes analysed
A retinal dystrophy caused by changes in the TOPORS gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the CNGB1 gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the CNGA1 gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the PDE6A gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the PDE6G gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the MAK gene, including a founder variant common in people of Ashkenazi Jewish ancestry.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the CERKL gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the MERTK gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the PCARE gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the KIZ gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the IMPG2 gene.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in the RLBP1 gene.
Also known as
Bothnia retinal dystrophy; cone-rod dystrophy caused by mutation in RLBP1; fundus albipunctatus; Newfoundland ROD-cone dystrophy; NFRCD; pigmentary retinal dystrophy; retinitis punctata albescens; RLBP1 cone-rod dystrophy; RLBP1 retinopathy; Vasterbotten dystrophy; Västerbotten dystrophy
Autosomal recessive
A retinal dystrophy caused by changes in both copies of FLVCR1, sometimes with posterior column ataxia.
Genes analysed
Also known as
posterior column ataxia with retinitis pigmentosa; autosomal recessive posterior column ataxia and retinitis pigmentosa; AXPC1; FLVCR1 retinopathy with or without ataxia; PCARP; posterior column ataxia-retinitis pigmentosa syndrome
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