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3680 results found

Congenital aniridia with or without retinal detachment

The authors present the clinical and molecular genetic evaluations performed on a large Iranian pedigree with 26 aniridia affected patients in four generations and some with retinal detachment. Members of the family affected with aniridia were invited to participate after...

Examination of optic disc drusen using computer-based fundus analysis

This case-control study analysed the optic disc angioarchitecture in optic disc drusen (ODD) using computer-based fundus examination. A group of ODD patients were compared to a group of healthy controls with normal optic discs. The cohort included 30 healthy volunteers...

Evaluation of ectopia lentis et pupillae (ELP)

The ADAMTSL4 gene encodes proteins for cellular adhesion, angiogenesis, nervous system development and anterior / posterior segment structures. This case report describes a four-year-old female with diagnosis at referral of ELP. A three-generation pedigree was obtained and was negative for...

Effect of long-term RGP-CL wear on keratoconus progression

This is a retrospective study between April and December 2017, of 22 rigid gas-permeable contact lens (RGP-CL) patients (31 eyes) and 15 non-CL patients (20 eyes) who fulfilled the criteria of: 1) >3 years follow-up and 2) Scheimpflug-based corneal imaging...

Retinal findings in COVID-19 patients

This is a single centre cross-sectional study from Brazil between 20 to 23 May 2020, with a total of 18 patients; nine male and median age was 62.5-years-old. 10/18 (55.6%) had retina abnormalities upon dilated eye examination. Flame-shaped haemorrhages were...

Prevalence of misdiagnosis of third nerve palsy by referring clinicians

The authors present a retrospective case review of new patient presentations to a neuro-ophthalmology clinic at two centres between 2014 and 2017. The electronic medical records were searched using the variety of terms for third nerve palsy. Referral for management...

Presenting and diagnostic signs of retinoblastoma

This study revisits the presenting signs of retinoblastoma (RB) in the context of current best practice with respect to diagnosis and assessment of RB. This was a retrospective review of 131 consecutive cases, excluding those with positive family history over...

Causes of photophobia in adults and children

This retrospective case review identified individuals of any age with visual discomfort using billing records over an eight-year period. These records were screened for photophobia / light sensitivity as a main symptom or documented during examination. Data including demographics, medical...

Narrative review of opsoclonus myoclonus ataxia syndrome following COVID-19

Opsoclonus myoclonus syndrome (OMS) / opsoclonus myoclonus ataxia syndrome (OMAS) is a rare central nervous system manifestation of COVID-19, but an increasing number of articles have reported patients in whom COVID-19 was complicated by OMS / OMAS. This narrative review...

Case presentation: seizures as a presenting sign of idiopathic intracranial hypertension

Idiopathic intracranial hypertension (IIH) is a syndrome of isolated elevated intracranial pressure of unknown cause. Neurological examination in IIH is typically normal except for papilloedema and possible cranial nerve six palsy, although rare, atypical symptoms and signs can occur. With...

Characteristics of cherry red spot on optical coherence tomography

In this study the authors report optical coherence tomography (OCT) characteristics of cherry red spot from three cases of Tay-Sachs and one case of Niemann Pick diseases to determine associated factors and potential visual implications. This was a retrospective case...

Stargardt disease in a Turkish cohort

The authors present a study of 27 Turkish patients who were seen in a single centre over a five-year period. All patients had macular optical coherence tomography (OCT), colour fundus photography and 30-2 Humphery visual fields performed, along with clinical...