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Published on: September 22, 2017
Natural History of Autosomal Recessive IMPG2-Associated Retinal Dystrophy
Michalis Georgiou1, Kaoru Fujinami2, Yu Fujinami-Yokokawa3
1From the Moorfields Eye Hospital (M.G., K.F., O.A.M., N.P., Z.P., A.R.W., M.M.), London, United Kingdom; UCL Institute of Ophthalmology (M.G., K.F., O.A.M., N.P., Z.B., Y.F.Y., A.R.W., M.M.), University College London, London, United Kingdom; Duke Eye Center (O.A.M., R.S.M.), Durham, North Carolina, USA.
Autosomal recessive IMPG2-associated retinal dystrophy usually begins early and causes vision loss. Early macular changes suggest potential benefits from future interventions for younger patients with this condition.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Diseases
Background:
- Autosomal recessive retinal dystrophies represent a significant cause of inherited vision loss.
- Mutations in the IMPG2 gene are implicated in a subset of these disorders.
- Understanding the natural history of IMPG2-associated retinal dystrophy is crucial for patient management and therapeutic development.
Purpose of the Study:
- To delineate the clinical and genetic characteristics of autosomal recessive IMPG2-associated retinal dystrophy.
- To describe the natural history, including age of onset, visual acuity, and presenting symptoms.
- To identify novel variants in the IMPG2 gene associated with retinal dystrophy.
Main Methods:
- A multicenter international retrospective case series.
- Inclusion of sixty patients with molecularly confirmed IMPG2 variants from 14 centers.
- Analysis of clinical data, fundus autofluorescence (FAF), optical coherence tomography (OCT), and molecular genetic testing.
Main Results:
- Sixty patients from 52 pedigrees with IMPG2 variants were analyzed.
- Early onset (<18 years) was observed in 77% of patients, with a mean age of onset of 10.8 years.
- Common findings included myopia (88%), nyctalopia (48%), decreased visual acuity (38%), and foveal atrophy on OCT/FAF.
- Fifty-three unique IMPG2 variants were identified, with 40% being novel.
Conclusions:
- Autosomal recessive IMPG2-retinal dystrophy is typically an early-onset condition characterized by progressive vision loss.
- Early macular involvement is a hallmark, suggesting potential therapeutic windows for early intervention.
- Genetic characterization reveals a spectrum of mutations, including a significant proportion of previously undescribed variants.
