Case Series of Stargardt ' s Disease-our Experience

Stargardt disease is the most coflrmon form of juvenile macular degeneration. Clinically, it is characterizedby pisciform flecks at the level of the retinal pigment epithelium and a bull's-eye maculopathy. Inheritance is usually autosomal recessive, although dominantly inherited case have been described. Both sexes are affected equally. We reported here three cases of Stargardt's macular dystrophy, who are siblings and daughters of non consanguineous parents. In case-l,2 and 3 we found the typical presentation with almost same findings.


Introduction !
, Stargardt disease is the most common type of hereditary recessive macular dystrophy.The estimated incidence for the disease is 1 in 10,000 live births, and it characteristi- cally presents in juveniles and young adultsl.Patients begin to experience a bllateral, gradual decline in their vision between the ages of 6 and 20 years, and can present with visual acuity ranging from 6118 to 6160.Their prior visual acuity is often normal, though their final acuity is often 201200 or worse' .It was named for the German ophthalmologist Karl Starg ardt, and may also be called fundus flavimaculatus.This condition affects retinal pigment epithelium (RPE).In people with Stargardt disease the RPE collects lipofuscin, which can lead to vision problems.Vision loss in Stargardt disease is most intense in the macula.Stargardt disease is part of a group of diseases affecting the macular region of the retina, called macular degenerations.Stargardt disease is some- times called a juvenile macular degeneration because it often appears at an early age3.
"For most families with Stargardt disease, the inheritance Address for Correspondence: Syed Abdul Wadud, Associate professor Department of community ophthalmology, B SMMU. IBSMMU J 2014 ; 7 (2) : ]47-ts0l pattern is autosomal recessive.Recently a small number of families were found to have an autosomal dominant pattern of inheritance.This form is called a "stargardt like" disease, and looks similar to the autosomal recessive form.These two forms are actually different diseases with different mechanisms.An accurate family tree or gene testing can help distinguish one from the other.Autoso- mal recessive Stargardt disease is caused by mutations in a gene called ABCA4.A second gene called ELOVDT has been found to be the cause of the autosomal dominant form of Stargardt-like disease.Severity of disease may be related to how severely a gene change affects gene function.Sometimes, a gene is also influenced by other genes or the environment.These factors help explain why variation exists within the same family.Patients with questions about their personal form of Star gardt disease should be guided by experienced health professionals, such as an ophthalmologist or genetic counselor, who know about genetics and Stargardt disease.
The classical Stargardt phenotype is charactenzed by a juvenile -onset fov eal atrophy sulrounded by discrete, yellowish , round or pisciform flecks at the level of the Case -I A 23-yrs old healthy young lady, presented at ophthalmo- ogy of Bangabandhu Sheikh Mujib Medical University (BSMMU) with the complaints of gradual dimness of vision of both eyes since her 6 years of age.There was no history of night blindness, loss of color vision, trauma or surgery to the eye.The patient consulted with local ophthalmologist at that time and was prescribed some eye drops, vitamins and refractive correction but her vision was not improved.On examination her (Best corrected visual acuity) BCVA 6160 BlE.Anterior segment it was within normal limit BlE, pupillary light reaction brisk B/E.On fundoscopic examination : Pigments were seen at the foveal zone with flecks all around (Fig - 1a).Disc was normal.Vascular pattern was nofinal in both eyes (Fig - 1b).Nonspecific mottlin g at the fovea.oval macular lesion about 1.5 disc diameter in size of Beaten -br onze appearance.Macular lesion was surrounded by yellow white flecks.Atrophic changes in the RpE and secondary changes in the photoreceptors.Retinathickness of was decreased.notably in the fovea.Photo receptors were lost External nuclear layer was changed.Abnormalities in the retinal pigment epithelium were seen (Fig - 1b).Average thickness was 163.2 umand central thickness was 56 um Case -2 A 12 yars old girl presented to opD of BSMMU with the complaint of gradual dimness of vision of her both eyes since her 6-yrs of age.She had no history of ocul ar pain, trauma, photophobia or seeing haloes around light.Shd consulted with a local ophthalmologist at that time and was prescribed some eye drops,,vitamins and refractive correction but her vision was not improved satisfactorily.on examination her BCVA 6118 both eyes, anterior segment-within normal limit.Pupillary light reaction was brisk in both eyes.On fundoscopic examination-Disc was normal, foveal reflex was dull.Pigmentary changes seen Fig-lb  prescribed some eye drops, vitamins and given refractive correction but her vision was not improved.On examina- tion her BCVA 6t124 both eyes, anterior segment within normal limit, papillary light reaction-brisk both eye.On fundoscopic examination.Disc : normal, foveal reflex : dull, pigmentery changes seen at fove al zone, flecks are seen all around macula in BtE (Fig : 3a).Non specific mottlin g at the fovea.Oval macular lesion about 1.5 disc diameter in size, which is Snailslime appe arance with Bull's eye maculopathy.Macular lesion was surrounded by yellow white flecks.Atrophic changes in the RPE and secondary changes in the photoreceptors was seen.
Decrease thickness of retina, notably in the fovea and of photo receptors and external nuclear layer changes were seen.Abnormalities in the retinal pigment epithelium (Fig - 2b).Average thickness was 193.9 um.Central thickness was 33 um.
Fig-lb  z [Decrease thickness of retina.Notably in the fovea.Loss of photo receptors.External nuclear layer changes.Abnormalities in the retinal pigment epithelium.Average thickness 163.2 um and central thickness is 56 um.l Non specific mottling was seen at the fovea.Oval macular lesion about 1.5 disc diameter in size like Bull's eye maculopathy was obscrved.Macular lesion suffounded by yellow white flecks.Atrophic changes in and RPE and secondary changes in the photoreceptors and decreased thickness of retina.notably in the fovea and lost of photo receptors and external nucle at layer changes were Seen.Abnormalities in the retinal pigment epithelium (Fig 2b).withverage thickness 187.7 um & central thickness