Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)
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The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and later cone photoreceptor function leading to severe visual impairment. RP usually occurs as an isolated retinal disorder, but it may also be seen in association with systemic abnormalities.
Condition or disease
X-linked Retinitis Pigmentosa (XLRP) is a severe form of RP with early onset of nyctalopia and progression to legal blindness by the 3rd to 4th decade. Most affected males show symptomatic night blindness before the age of 10 years, are often myopic and show fundus abnormalities and ERG changes in early childhood. Examination of close female relatives is helpful in the absence of a family history, as the recognition of the XL carrier state will confirm the diagnosis.
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Layout table for eligibility information
Ages Eligible for Study:
5 Years and older (Child, Adult, Older Adult)
Sexes Eligible for Study:
Accepts Healthy Volunteers:
Patients with RPGR-associated retinal dystrophy
Males aged 5 years or older
Have RPGR-associated retinal dystrophy
Are able to give informed consent or assent, with the guidance of their parent/guardian where appropriate
Are able to undertake age-appropriate clinical assessments as specified in the protocol
Are unable or unwilling to undertake consent or clinical testing