The patient was a 47-year-old woman with longstanding, stable, mildly blurred vision in each eye. Her medical and ophthalmic history were unremarkable, and there was no known family history of ophthalmic disease. Her visual acuity was 20/20 J1 OU. The clinical examination was remarkable for deep yellowish flecks in each eye. What is the most likely diagnosis? What treatment, if any, would you recommend?
The patient had deep yellowish flecks in each eye that showed punctate hyperautofluorescence and surrounding hypoautofluorescence with a linear configuration to the autofluorescence abnormalities. The OCT revealed focal areas of disruption of the outer retina and accumulation of reflective subretinal material. There was also material extending into and sometimes through the outer nuclear layer. Fluorescein angiography revealed punctate hyperfluorescence without leakage and an unremarkable choroid.
Clinically, this patient appears to have had Stargardt disease. Atypical features include the good visual and the absence of a “dark choroid” on fluorescein angiography, which is common in patients with Stargardt disease and is due to lipofuscin accumulation. Neither of these atypical features rule out Stargardt disease, however.
Stargardt disease is an autosomal recessive condition resulting from mutation(s) of the ABCA4 gene. (1,2) This gene codes for the photoreceptor transmembrane rim protein ATP-binding cassette transporter (ABCR) protein, which removes toxic derivatives of carotenoids. There are over 2000 known variants of the ABCA4 gene, many of which are pathological. Our patient had genetic testing, which identified two pathological variants of the ABCA4 gene. If both were on the same chromosome, a functional ABCA4 gene on the other chromosome would prevent Stargardt disease. If there were one pathological gene on each chromosome, the patient would present with Stargardt disease. It was also possible that the two identified pathological variants were on the same chromosome, and there was an as-yet-unidentified pathological variant on the other chromosome that would result in the disease.
Another diagnostic consideration is autosomal dominant Stargardt-like macular dystrophy, a type of pattern macular dystrophy. The autofluorescent findings of our patient, thought typical of Stargardt disease, can also be seen in some patients with macular dystrophies. As with our patient, there is no dark choroid in patients with pattern dystrophies. (3)
It is possible that, in the future, gene therapy might prevent the central visual loss that often occurs in patients with Stargardt disease.
1. Al-Khuzaei S, Broadgate Z, Foster CR, et al. An overview of the genetics of ABCA4 retinopathies, an evolving story. Genes 2021;12:1241-70.
2. Romano F, Lamanna F, Boon, MJF, et al. Clinical, genotypic, and imaging characteristics of the spectrum of ABCA4 retinopathies. Ophthalmology Retina 2024;8:509-19.
3. Donoso LA, Edwards AO, Frost A, et al. Autosomal dominant Stargardt-like macular dystrophy. Survey of Ophthalmology 2001;46:149-63.
The patient had deep yellowish flecks in each eye that showed punctate hyperautofluorescence and surrounding hypoautofluorescence with a linear configuration to the autofluorescence abnormalities. The OCT revealed focal areas of disruption of the outer retina and accumulation of reflective subretinal material. There was also material extending into and sometimes through the outer nuclear layer. Fluorescein angiography revealed punctate hyperfluorescence without leakage and an unremarkable choroid.
Clinically, this patient appears to have had Stargardt disease. Atypical features include the good visual and the absence of a “dark choroid” on fluorescein angiography, which is common in patients with Stargardt disease and is due to lipofuscin accumulation. Neither of these atypical features rule out Stargardt disease, however.
Stargardt disease is an autosomal recessive condition resulting from mutation(s) of the ABCA4 gene. (1,2) This gene codes for the photoreceptor transmembrane rim protein ATP-binding cassette transporter (ABCR) protein, which removes toxic derivatives of carotenoids. There are over 2000 known variants of the ABCA4 gene, many of which are pathological. Our patient had genetic testing, which identified two pathological variants of the ABCA4 gene. If both were on the same chromosome, a functional ABCA4 gene on the other chromosome would prevent Stargardt disease. If there were one pathological gene on each chromosome, the patient would present with Stargardt disease. It was also possible that the two identified pathological variants were on the same chromosome, and there was an as-yet-unidentified pathological variant on the other chromosome that would result in the disease.
Another diagnostic consideration is autosomal dominant Stargardt-like macular dystrophy, a type of pattern macular dystrophy. The autofluorescent findings of our patient, thought typical of Stargardt disease, can also be seen in some patients with macular dystrophies. As with our patient, there is no dark choroid in patients with pattern dystrophies. (3)
It is possible that, in the future, gene therapy might prevent the central visual loss that often occurs in patients with Stargardt disease.
1. Al-Khuzaei S, Broadgate Z, Foster CR, et al. An overview of the genetics of ABCA4 retinopathies, an evolving story. Genes 2021;12:1241-70.
2. Romano F, Lamanna F, Boon, MJF, et al. Clinical, genotypic, and imaging characteristics of the spectrum of ABCA4 retinopathies. Ophthalmology Retina 2024;8:509-19.
3. Donoso LA, Edwards AO, Frost A, et al. Autosomal dominant Stargardt-like macular dystrophy. Survey of Ophthalmology 2001;46:149-63.
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