Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]
Clin Case RepABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Sultana N, Mamun AA, Begum A.
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Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management [PDF]
Vet OphthalmolABSTRACT A 15‐week‐old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip‐to‐lid transmucosal flap was performed. Given the subsequent development of prolapse of
Ng C +4 more
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Superior Lens Coloboma with Superior Rectus Palsy and Congenital Ptosis
Journal of Optometry, 2009 A lens coloboma is characterized by the lens tissue's notching at the equator. It is usually inferior-nasal else it is called an atypical coloboma. We report a young male who presented with a superior lens coloboma, an elevation deficit and moderate ...
Jitendra Jethani +2 more
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Renal Coloboma Syndrome—An Autosomal Dominant Genetic Disorder
Indian Journal of Radiology and Imaging, 2023 Renal coloboma syndrome is an autosomal dominant genetic disorder that primarily affects kidney and eye development. It is also known as papillorenal syndrome.
S. Shanmuga Jayanthan +6 more
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Retinal Detachment in a Patient with Microphthalmos and Choroidal Coloboma
Journal of the Formosan Medical Association, 2007 We report a rare case of retinal detachment with microphthalmos and choroidal coloboma. A 28-year-old man who had suffered from poor vision since early childhood was examined because of progressive deterioration of vision in his right eye. Examination of
Muh-Shy Chen +4 more
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Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report
Indian Journal of Plastic Surgery, 2023 The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas ...
Ved Prakash Rao Cheruvu +3 more
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A Typical Lens Coloboma – A Rare Cause of Childhood Blindness
Delhi Journal of Ophthalmology, 2011 A lens coloboma is a rare congenital anomaly characetrised by its nothching at the eguator occurring generally at the site of embryonic fissure i.e. inferonasally. Superior Lens Coloboma is rare ocular finding.
Punita Garg, Parul Aggarwal, H.K Sidhu
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Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure
Frontiers in Cell and Developmental Biology, 2021 A key embryonic process that occurs early in ocular development is optic fissure closure (OFC). This fusion process closes the ventral optic fissure and completes the circumferential continuity of the 3-dimensional eye.
Brian Ho Ching Chan +5 more
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Polypoidal Choroidal Vasculopathy Associated with Optic Disc Coloboma
Case Reports in Ophthalmology, 2018 Purpose: To report a case of polypoidal choroidal vasculopathy associated with optic disc coloboma. Methods: Case report. Results: A 50-year-old woman presented with optic disc coloboma and retinochoroidal coloboma associated with subretinal hemorrhage ...
Yumiko Nakano +3 more
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Recurrent Meningitis with Upper Airway Obstruction in A Child: Frontonasal Encephalocele- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Nasal encephalocele are rare congenital anomalies; these benign masses may be confused with nasal dermoids, hemangiomas, nasal gliomas and anterior skull base masses.
Soumya Sachdeva +3 more
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