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Condition report · Ophthalmological
Hereditary macular dystrophies are inherited conditions that affect the macula, the central part of the retina used for reading and recognising faces. They include Best disease, pattern dystrophies, Sorsby fundus dystrophy and Bietti crystalline dystrophy.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
A dominant macular dystrophy caused by changes in BEST1, with yellow yolk-like deposits under the macula.
What a diagnosis changes
Regular eye checks allow early treatment of complications such as abnormal blood vessel growth.
Genes analysed
Autosomal recessive
A retinal dystrophy caused by changes in both copies of BEST1.
What a diagnosis changes
Eye monitoring includes checks for raised eye pressure (angle-closure glaucoma), which can occur in this condition.
Genes analysed
Also known as
ARB; retinopathy, Burgess-Black type
Autosomal dominant
A retinal condition caused by changes in PRPH2, which can cause pattern dystrophy, adult vitelliform dystrophy or wider retinal degeneration, even within one family.
What a diagnosis changes
Regular eye examinations help detect complications and support planning.
Autosomal dominant
A dominant macular dystrophy caused by changes in TIMP3, usually starting in mid-adulthood.
What a diagnosis changes
There is a high risk of abnormal blood vessel growth under the retina, which responds to anti-VEGF injections, so monitoring and prompt treatment matter.
Genes analysed
Also known as
SFD; Sorsby's pseudoinflammatory macular dystrophy
Autosomal dominant
A dominant condition caused by changes in EFEMP1, with drusen-like deposits that can resemble early age-related macular degeneration.
What a diagnosis changes
Regular eye checks allow early treatment of complications.
Genes analysed
Also known as
DHD; DHRD; dominant drusen; dominant radial drusen; Doyne honeycomb degeneration of retina; Malattia leventinese
Autosomal dominant
A dominant, largely non-progressive macular dystrophy present from early life, associated with changes near the PRDM13 gene.
Genes analysed
Also known as
CAPE dystrophy; CAPED; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; foveal dystrophy progressive; macular dystrophy 1, North Carolina type; macular dystrophy retinal 1 North Carolina type; MCDR1; NCMD; North Carolina macular dystrophy, retinal 1
Autosomal recessive
A recessive retinal dystrophy caused by changes in both copies of CYP4V2, with glistening crystals in the retina and progressive vision loss.
What a diagnosis changes
A genetic diagnosis can give access to gene-therapy clinical trials.
Genes analysed
Also known as
BCD; Bietti crystalline retinopathy
Autosomal dominant
A dominant macular dystrophy caused by changes in RP1L1, with central vision loss but an apparently normal retina on routine examination.
What a diagnosis changes
A genetic diagnosis explains vision loss that standard eye examinations may not.
Genes analysed
Also known as
OCMD; OMD
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