Inherited retinal diseases are the most common cause of blindness in the working-age population in Australia

Abstract

Background: This study examined the frequency of inherited retinal diseases (IRDs) as the reason for blindness registrations over the last two decades and the demographic and clinical phenotypes of inherited retinal disease (IRD)-related registrations. Materials and methods: Retrospective, observational study of individuals registered with a state-wide blind and vision-impaired registry. Low-vision or blindness-only (≤20/200 or ≤20°) certificates issued to children (0-15 years), working-age (16-64 years) and older-age (65 and older) adults were assessed. Sex and age distributions were examined for the top 20 reasons for certification. Demographic and clinical features of specific phenotypes of IRDs listed in the registry were examined. Results: Amongst 11824 low-vision certificates issued between July 1995 and January 2017, 679 (5.7%) listed an IRD as the reason for registration. In individuals with blindness-only certification (N=4919), IRDs was the second most common diagnosis (8.3%), overtaking glaucoma (8.1%) and diabetic retinopathy (5.4%). IRD was the second most common reason for low-vision certification amongst children (11.6%) and the most common reason amongst working-age population (23.3%). The mean±SD age for IRD-related blindness-only certification was 46±20 years. The top three phenotypes of IRD-related low-vision certification were non-syndromic retinitis pigmentosa (54%), Stargardt disease (12%) and macular dystrophy (8%). Conclusion: Our findings of IRDs as a common cause of blindness in all ages justify continued funding for providing low-vision services and developing treatments for these conditions.

Genotype-Specific Lesion Growth Rates in Stargardt Disease

“…Stargardt disease (STGD1, OMIM#248200) is one of the most common monogenic inherited retinal diseases [ 1 , 2 ]. The growth rate (GR) of retinal pigment epithelial atrophy, known as definitely decreased autofluorescence (DDAF), is a widely accepted clinical trial endpoint [ 3 ].…”

Stargardt disease: Multimodal imaging: A review

“…82,83,126 More recently, Georgiou et al 84 also reported a mean ER of 0.69, 0.78 and 0.40 mm 2 /year for children, adults with childhoodonset and adults with late-onset STGD1 suggesting the importance of genotype in determining ER. Fujinami et al 3 also assessed the effect of specific genotypes on DDAF progression and found an atrophy ER of 0.45 and 0.39 mm 2 /year in patients harbouring c.5461-10T>C and c.6079C>T variants, respectively. 127 In contrast, those with c.5882G>A showed an ER of only 0.20 mm 2 / year.…”

“…Stargardt disease (STGD1, OMIM #248200), caused by biallelic mutations in the ATP-binding cassette transporter subfamily A4 (ABCA4) gene, 1 is one of the most common genetic inherited retinal diseases (IRDs) 2 accounting for 12% of IRD-related blindness. 3 Initially described as a juvenile macular dystrophy, 4 the spectrum of ABCA4-associated retinopathy has been expanded to include childhood-onset cone-rod dystrophy, 5 rapidly progressive pan-retinal chorioretinal atrophy 6 and the late-onset pattern dystrophy-like disease with foveal sparing macular atrophy. 7,8 With the emergence of ABCA4specific molecular and genetic therapies, it is essential that the clinical diagnosis of STGD1 is made promptly through the appropriate use of multimodal imaging to guide timely and accurate genetic analysis, allowing for the early enrolment of these patients into clinical trials of novel therapies.…”

Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

“…Inherited retinal diseases (IRDs) are the most common cause of blindness in the working-age population [1,2]. Retinitis pigmentosa (RP) is the most common form of IRDs accounting for almost half of the Australian national IRD registry [3].…”

“…Retinitis pigmentosa (RP) is the most common form of IRDs accounting for almost half of the Australian national IRD registry [3]. Characterised by initial night vision impairment followed by progressive symmetrical constriction of the visual field, RP contributes to 64% of IRD-related blindness certification at a mean age of 48 years [1]. The Online Mendelian Inheritance in Man (OMIM) has listed RP genotype sequentially from RP1 to RP91.…”