Related symptoms: Intellectual disability Cryptorchidism Cognitive impairment Brachydactyly Blindness SOURCES: OMIM MENDELIAN More info about BARDET-BIEDL SYNDROME 4; BBS4 Low match SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY; SRTD4 Short-rib [mendelian.co]

Many people with this condition live full lives without serious disability. Some studies have suggested a link between poor nutrition and faster degeneration of the macula. [medbroadcast.com]

Dr__Justis_Ehlers : Low vision specialists are professionals who specialize in helping patients who have functional disability from their vision loss. This multidisciplinary approach can be critical to maintaining quality of life. [my.clevelandclinic.org]

Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006 Nov 10. 314(5801):992-3. [Medline]. [emedicine.medscape.com]

View Article PubMed PubMed Central Google Scholar Yang Z, Camp NJ, Sun H, Tong Z, Gibbs D, Cameron DJ, et al. A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science. 2006;314(5801):992–3. [jmedicalcasereports.biomedcentral.com]

Fundus eye examination revealed the presence of a bilateral and symmetric pattern of macular hyperpigmentation (of three disk diameters in size) which adopted a reticular configuration with patches of hypopigmentation between hyperpigmentated areas. [evrs.eu]

Choroidal neovascularization, hyperpigmentation and reticular pseudodrusen were seen as representative markers for classical wet type of age-related macular degeneration. [jmedicalcasereports.biomedcentral.com]

Areas of sharply demarcated hypopigmentation or hyperpigmentation of the peripheral retina are sometimes seen, representing GA of the RPE. [patient.info]