Results 21 to 30 of about 2,591 (114)

A rare case of stickler marshall syndrome

TNOA Journal of Ophthalmic Science and Research, 2020
A 35 year old female presented to us with sudden painless diminution of vision in the right eye (RE) since 10 days. There was no history of trauma. She gave systemic history of hearing loss since 4 years of age and also complained of joint pains on and ...
Bharat Gurnani, Kirandeep Kaur
doaj   +1 more source

Persistent fetal vasculature with colobomatous cystic optic disc in a microphthalmic eye: A clinicopathological case report

Journal of Clinical Ophthalmology and Research, 2020
Aim: To present a rare clinico-pathological case of persistent fetal vasculature with colobomatous cystic optic disc in a micro-ophthalmic eye. Method: A case report. Results: An 8 year boy presented to the tertiary eye care center was diagnosed as micro-
Palak Chirania, Dipankar Das, Kasturi Bhattacharjee, Manab Jyoti Barman, Gayatri Bharali, Panna Deka, Apurba Deka   +6 more
doaj   +1 more source

Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele

, 1995
To evaluate the clinical significance of V- or tongue-shaped infrapapillary retinochoroidal depigmentation in association with dysplastic optic discs.Clinical data from all patients with V- or tongue-shaped infrapapillary retinochoroidal depigmentation ...
Brodsky, M C, Miller, N R, Lam, B L, Hoyt, C S, Hoyt, W F   +4 more
core   +3 more sources

Retinochoroidal coloboma in a female Nigerian.

, 2020
We report a case of retinochoroidal coloboma in a 32 year old Nigerian female who first presented to the eye outreach clinic with a history of poor vision in the left eye of two years duration.
Babalola, Y. O., Oluleye, T. S.
core   +1 more source

Retinochoroidal Coloboma

, 2018
exaly   +2 more sources

Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review

BMC Pediatrics, 2020
Background Joubert syndrome is a recessive neurodevelopmental disorder characterized by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial dysmorphism, abnormal eye movement, irregular breathing pattern cognitive ...
Marcello Niceta, Maria Lisa Dentici, Andrea Ciolfi, Romana Marini, Sabina Barresi, Francesca Romana Lepri, Antonio Novelli, Enrico Bertini, Marco Cappa, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia   +11 more
doaj   +1 more source

DNA variation in the SNAP25 gene confers risk to ADHD and is associated with reduced expression in prefrontal cortex [PDF]

, 2013
This work was part funded by the MRC.Background: The Coloboma mouse carries a similar to 2 cM deletion encompassing the SNAP25 gene and has a hyperactive phenotype similar to that of ADHD.
Matthews, Natasha, Vance, Alasdair, Joseph Wagner, Kent, L, Ziarih Hawi, Robyn H Wallace, Gill Michael, Natasha Matthews, Alasdair Vance, Butler, Tim J., Butler, TJ, Matthews Natasha, Wallace Robyn H., Kent Lindsey, Hawi Ziarih, Tim J Butler, Lindsey Kent, Wagner Joseph, Hawi, Z, Bellgrove Mark A., Hawi, Ziarih, Butler Tim J., Matthews, N, Wagner, Joseph, Bellgrove, MA, Vance, A, Kent, Lindsey, Gill, Michael, Wallace, Robyn H., Vance Alasdair, Wagner, J, Mark A Bellgrove, Wallace, RH, Michael Gill, Bellgrove, Mark A., Gill, M   +35 more
core   +2 more sources

Unilateral coexistent optic pit and choroidal coloboma

, 2002
A 48-year-old diabetic woman was referred to us for retinopathy screening. Visual acuity was 20/20 with a refraction of -8.00 in each eye. Fundoscopy of the left eye revealed an inferotemporal optic pit and inferior typical retinochoroidal coloboma ...
Saatci, ALİ OSMAN, Soylev, FM, Kocak, NİLÜFER   +2 more
core   +1 more source

A rare occurrence of superior retinochoroidal coloboma: A case report

Indian Journal of Ophthalmology. Case Reports
Purpose: To brief a rare case of superior retinochoroidal coloboma and to analyze the possible embryogenic aspects involved in its provenance. Method: A case report.
Sayan Mukerjee, Sourabh Patwardhan, Nidhi Patwardhan   +2 more
doaj   +1 more source

Unilateral optic nerve aplasia with meningocele: An unreported association

Indian Journal of Ophthalmology. Case Reports
A 3-month-old child presented with complaints of squinting and a lump on his head. Clinical examination showed left eye esotropia, microphthalmos, absent optic nerve head, and retinochoroidal coloboma. Magnetic resonance imaging revealed left-sided optic
Ankita Bisani, Akila Chandrasekaran, Saranya Settu, Rohan Arora   +3 more
doaj   +1 more source