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Background: Autosomal recessive bestrophinopathy is part of the diverse spectrum of retinal diseases caused by mutations in the BEST1 gene.
Methods: A case report.
Results: We present a case that highlights the classic retinal findings of autosomal recessive bestrophinopathy with an emphasis on modern multimodal imaging.
Conclusion: We describe modern multimodal imaging in an individual with a BEST1 gene mutation and clinical findings consistent with an autosomal recessive bestrophinopathy.
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http://dx.doi.org/10.1097/ICB.0000000000000707 | DOI Listing |
BMJ Case Rep
September 2025
Guy's and St Thomas' Hospitals NHS Trust, London, England, UK.
Autosomal recessive renal tubular dysgenesis (RTD) is a rare genetic disorder caused by defects in the renin-angiotensin system, with the most common outcomes being foetal or neonatal death from renal failure, pulmonary hypoplasia and/or refractory arterial hypotension. A small proportion of patients survive past the neonatal period. We present the case of a toddler with RTD due to compound heterozygous variants in the gene that codes for ACE, who has not required renal replacement therapy to date and in whom fludrocortisone has achieved electrolyte and acid/base balance.
View Article and Find Full Text PDFBMJ Case Rep
September 2025
Department of Pathology and Lab Medicine, All India Institute of Medical Sciences Jodhpur, Jodhpur, Rajasthan, India.
Gaucher's disease (GD) is the most common lysosomal storage disorder inherited in an autosomal recessive pattern. It occurs due to a deficiency of the enzyme glucocerebrosidase owing to a mutation in the acid-β-glucosidase () gene resulting in accumulation of glucocerebrosides in lysosomes of cells. It presents with abdominal distension, hepatosplenomegaly, developmental delay, pancytopenia, neurological manifestations and bone diseases.
View Article and Find Full Text PDFPract Neurol
September 2025
Neurology Department, Croydon University Hospital, London, England, UK
A 22-year-old woman had an 8-year history of progressive bilateral vision loss and of diabetes mellitus. Her mother had diabetes and two first cousins had severe congenital deafness. On examination, her visual acuities were 6/36 bilaterally, with absent colour vision and gross optic disc pallor.
View Article and Find Full Text PDFJ Neurol Neurosurg Psychiatry
September 2025
Department of Neurosciences and Behavioural Sciences, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, São Paulo, Brazil
Background: Biallelic variants lead to autosomal recessive Charcot-Marie-Tooth type 4C (CMT4C) which is typically demyelinating and associated with early-onset spinal deformities. Electrophysiology typically reveals a non-uniform conduction velocity (CV) slowing, a pattern traditionally linked to inflammatory neuropathies, potentially leading to diagnostic misinterpretation.
Objective And Methods: Clinical and neurophysiological data from 19 patients belonging to 16 unrelated families with confirmed CMT4C were retrospectively collected across six neuromuscular reference centres in Brazil.
Respir Physiol Neurobiol
September 2025
Department of Pediatrics, School of Medicine, Duke University.
Pompe disease is an autosomal recessive neuromuscular disorder characterized by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for lysosomal glycogen degradation in all cells. Respiratory distress is a common symptom among patients with Pompe disease resulting from weakness of primary respiratory neuromuscular units of the diaphragm and genioglossus and the motor neurons which innervate them. The only FDA approved treatment is enzyme replacement therapy (ERT) of recombinant human GAA (rhGAA) which slows the decline of motor function and extends life expectancy.
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