a 37-year - old nigerian trailer mechanic presented to the eye clinic of the university college hospital , ibadan , with gradual blurring of vision and difficulty reading and identifying peoples faces in both eyes over 10 years . ocular examination showed unaided visual acuity of 6/36 , n48 in both eyes ( ou ) . dilated fundoscopy showed macular atrophy and a beaten - bronze appearance with surrounding yellow white flecks in both eyes ( figure 1 ) . the patient s sister , oa , a 43-year - old , presented with similar history . ocular findings included a visual acuity of 6/36 and similar ophthalmoscopic findings ( figure 1 ) . stargardt s macular degeneration was first reported in 1901 by german ophthalmologist karl stargardt , from whom the disease gets its name.1 the degeneration starts in childhood , but the symptoms may not be apparent until age 3040 years . progressive central visual loss occurs due to photoreceptor damage,2 and color - vision defects are associated with this disease . the inheritance of stargardt s disease can be autosomal recessive or dominant.3 the most common form of stargardt s disease is the recessive form caused by mutations in the abca4 ( formerly abcr ) gene on chromosome 1p21-p13 . the mutations cause the production of a dysfunctional protein ( the adenosine triphosphate - binding cassette transporter ) , producing defective transport of n - retinylidene - phosphatidylethanolamine from the disk space to the cytoplasm of rods and cones . this leads to a buildup of a toxic metabolite lipofuscin , which then causes the photoreceptor and retinal pigment epithelial cells to degenerate by way of membrane permeability , lysosomal dysfunction , and the detachment of proapoptotic proteins , leading to a cell - death pathway.4 central vision loss occurs , while peripheral vision usually is retained.5 symptoms include wavy vision , blind spots , blurriness , impaired color vision , and difficulty adapting to dim lighting . children first notice difficulty in reading , complaining of gray , black , or hazy spots in the center of their vision . they report that a longer length of time is needed to adjust between light and dark environments . onset of symptoms usually is between 10 and 20 years of age.6 our patients presented with poor central vision dating back 10 years the classical oval ,  snail - slime ,  or  beaten - bronze  foveal appearance may be surrounded by yellow - white flecks , which is suggestive of stargardt s disease . in some cases , a geographic atrophy with bull s eye configuration may be seen.7 the two patients presented with the classical findings , as shown in figure 1 . one needs to bear in mind the phenotypic variability in the abca4 retinopathy , as described by burke et al.8 investigations supporting the diagnosis include fundus photo / autofluorescence showing loss of posterior pole autofluorescence and fluorescein angiography with a  dark choroid  from blockage of choroidal fluorescence by deposits of lipofuscin.9 the focal or pattern electroretinogram is preferred to a full - field electroretinogram . studies showed normal full - field electroretinogram in early stages of the disease.10 the visual field will show a central scotoma . treatment includes supportive measures , such as low - vision devices , photochromic lenses , and genetic counseling . embryonic stem cell therapy is undergoing consideration.11 our patients were reviewed and given low - vision devices . the inheritance of stargardt s disease can be autosomal recessive or dominant.3 the most common form of stargardt s disease is the recessive form caused by mutations in the abca4 ( formerly abcr ) gene on chromosome 1p21-p13 . the mutations cause the production of a dysfunctional protein ( the adenosine triphosphate - binding cassette transporter ) , producing defective transport of n - retinylidene - phosphatidylethanolamine from the disk space to the cytoplasm of rods and cones . this leads to a buildup of a toxic metabolite lipofuscin , which then causes the photoreceptor and retinal pigment epithelial cells to degenerate by way of membrane permeability , lysosomal dysfunction , and the detachment of proapoptotic proteins , leading to a cell - death pathway.4 central vision loss occurs , while peripheral vision usually is retained.5 symptoms include wavy vision , blind spots , blurriness , impaired color vision , and difficulty adapting to dim lighting . children first notice difficulty in reading , complaining of gray , black , or hazy spots in the center of their vision . they report that a longer length of time is needed to adjust between light and dark environments . onset of symptoms usually is between 10 and 20 years of age.6 our patients presented with poor central vision dating back 10 years . beaten - bronze  foveal appearance may be surrounded by yellow - white flecks , which is suggestive of stargardt s disease . in some cases , a geographic atrophy with bull s eye configuration may be seen.7 the two patients presented with the classical findings , as shown in figure 1 . one needs to bear in mind the phenotypic variability in the abca4 retinopathy , as described by burke et al.8 investigations supporting the diagnosis include fundus photo / autofluorescence showing loss of posterior pole autofluorescence and fluorescein angiography with a  dark choroid  from blockage of choroidal fluorescence by deposits of lipofuscin.9 the focal or pattern electroretinogram is preferred to a full - field electroretinogram . studies showed normal full - field electroretinogram in early stages of the disease.10 the visual field will show a central scotoma . treatment includes supportive measures , such as low - vision devices , photochromic lenses , and genetic counseling . embryonic stem cell therapy is undergoing consideration.11 our patients were reviewed and given low - vision devices . families of patients need adequate education and regular exams , especially the younger age - groups . the so - called rare diseases may be common in sub - saharan africa , and detailed retinal examination is important in patients presenting with poor central vision .
stargardt s disease is an inherited macular dystrophy that is transmitted in an autosomal recessive or dominant pattern . 
 the disorder is typically characterized by impairment of central vision , with onset around the first 1020 years of life . 
 stargardt s disease is rare in sub - saharan africa . 
 this is probably the first reported case in the subregion . 
 we present two siblings with the disease . 
 presentation , pathophysiology , and management modalities are discussed .