May 2025 in “Cermin Dunia Kedokteran” This study describes Coats disease as a non-hereditary, idiopathic retinopathy characterized by abnormal retinal vascular development, noting common symptoms such as leukokoria and strabismus, and emphasizes the use of imaging techniques to differentiate it from retinoblastoma.
52 citations
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January 2001 in “Eye” This review discusses challenges in treating CMO associated with uveitis and highlights the need for prospective studies to guide therapy, as current treatments are largely empirical and potentially harmful.
June 2007 in “Taiwan Journal of Ophthalmology” This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.
5 citations
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January 2012 in “International journal of trichology” This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.
4 citations
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June 2025 in “Cochrane Database of Systematic Reviews” This Cochrane review found no clear superiority among treatments for central serous chorioretinopathy, with low-dose photodynamic therapy, supplements, and eplerenone showing slightly higher probabilities of improving visual acuity, but evidence remains uncertain due to biases and small study sizes.
11 citations
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May 1998 in “Child's nervous system” This case report describes a 5-day-old male infant with a constellation of symptoms, including leptomeningeal angiomatosis, hair follicle nevus, and congenital alopecia, potentially representing a novel neurocutaneous syndrome.
87 citations
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December 2015 in “Cochrane library” This review observed limited evidence of clinically significant benefits from treatments for acute central serous chorioretinopathy, which often resolves spontaneously, but identified PDT and micropulse laser as the most promising for further trials.
6 citations
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August 2024 in “BMC Ophthalmology” This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.
9 citations
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July 2016 in “Genes” This study identified specific genetic variants as the cause of visual impairment and non-syndromic alopecia in two brothers, reinforcing the link between PDE6H variants and achromatopsia and LPAR6 variants and alopecia.
May 2013 in “Optometry and vision science” This abstract provides summaries of multiple clinical reports on topics like macular holes with posterior uveal melanoma, hemolacria, trichotillomania management with bimatoprost, Demodex identification methods, and psychological factors in contact lens discomfort, but reports no new research findings.
3 citations
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May 2024 in “BMC Medical Genomics” This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.
6 citations
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October 2001 in “British Journal of Ophthalmology” This article discusses the potential of intralesional cidofovir for treating SCC without systemic toxicity, noting that surgical excision remains the best treatment option; it reports no new clinical results.
April 2017 in “Journal of Investigative Dermatology” This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.
1 citations
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September 2024 in “BMC Ophthalmology” This study found significantly elevated central corneal thickness and intraocular pressure in patients with polycystic ovary syndrome, suggesting it should be considered in evaluating anterior segment diseases and glaucoma in women.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
22 citations
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April 2012 in “The American journal of pathology” This study found that the loss of Msx2 in knockout mice led to phenotypes similar to Peters anomaly and microphthalmia, suggesting that MSX2 plays a critical role in anterior segment development of the eye.
1 citations
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April 2021 in “Annals of Otology Rhinology & Laryngology” This report highlights the diagnosis of a giant congenital blue nevus with secondary cutis verticis gyrata in a 20-year-old Asian male, underscoring the need for clinicopathologic correlation due to overlapping features with cerebriform intradermal nevi.
May 2024 in “Clinical and experimental optometry” This case report describes a rare side effect of finasteride in a young male being treated for androgenic alopecia.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” This report details the clinical presentation of an 18-year-old female with Kallmann syndrome, noting her ocular issues and differences in sexual development. The researchers treated her eye conditions cosmetically with superficial keratectomy and amniotic membrane graft, followed by corneal tattooing and strabismus correction.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
4 citations
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October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
August 2024 in “Case Reports in Ophthalmology” In this case report, researchers observed that local radiation therapy to the orbits may not be sufficient to halt progression of new retinal lesions in older patients, even when the disease initially appears confined to the intraocular space.
17 citations
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May 2007 in “British Journal of Dermatology” This case report describes a child with Gomez–Lopez–Hernandez syndrome, highlighting developmental challenges and medical interventions, yet noting academic success and participation in mainstream activities.
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
2 citations
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May 2018 in “International journal of reproduction, contraception, obstetrics and gynecology” This case report describes a 41-year-old woman with lower abdominal pain who was found to have an ovarian cavernous hemangioma, highlighting the importance of correct diagnosis to prevent unnecessary radical surgery.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” In this case report, a 36-year-old woman with GAPO syndrome underwent successful XEN gelatin micro-stent implantation in both eyes to control primary open-angle glaucoma that was unresponsive to medical treatment, marking the first documented use of this minimally invasive glaucoma surgery in such a patient.
July 2024 in “Dermatology Practical & Conceptual” This article discusses the diagnostic challenges between certain neonatal scalp conditions and highlights the potential of line-field confocal optical coherence tomography to provide detailed, non-invasive skin examination, without presenting new clinical findings.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” This case report describes a patient with a rare combination of imperfect osteogenesis and Escobar syndrome, highlighting the genetic complexity and clinical manifestations of these conditions.
July 2020 in “Nepalese journal of ophthalmology” This case report from Nepal describes a five-year-old boy with Hutchinson Gilford Progeria Syndrome experiencing ocular manifestations, highlighting the role of ocular senescence in this genetic disorder.