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Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology and Head-Neck Surgery, Medical College and Hospital, Kolkata, West Bengal, India.
Congenital depigmentation may be associated with congenital sensorineural hearing loss leading to non-development of verbal speech. To illustrate the clinical features and work-up of 3 children diagnosed with auditory pigmentary disorders (APDs). Case series with a review of the literature.
View Article and Find Full Text PDFLow-vision intervention for oculocutaneous albinism in a Tertiary Eye Care Hospital in India.
Saudi J Ophthalmol
March 2023
Shri Bhagwan Mahavir Vitreoretinal Services, Sankara Nethralaya, Chennai, Tamil Nadu, India.
Purpose: The objective of this study on patients with albinism in different age groups was to compare their level of visual impairment with the low-vision intervention (LVI) and its benefit.
Methods: The medical records of 72 patients with low vision secondary to albinism who were referred to the low vision care clinic from 2015 to 2017 were analyzed. This included the demographic profile such as age, gender, occupation, ocular history, visual acuity status, and type of low-vision device (LVD) preferred.
Abnormal Retinal Vessel Architecture in Albinism and Idiopathic Infantile Nystagmus.
Invest Ophthalmol Vis Sci
May 2022
Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University Of Leicester, University Road, Leicester, LE1 7RH, United Kingdom.
Article Synopsis
- Infantile nystagmus syndrome (INS) can change how babies see and is linked to problems in the eye's blood vessels, just like in albinism.
- Scientists studied the eye images of 24 people with albinism, 10 with INS, and 34 people without these conditions to see how their retinal blood vessels differed.
- The results showed fewer and thinner blood vessels in people with albinism and INS compared to those without, possibly due to issues in the part of the eye that helps blood vessel development.
Abnormal foveal morphology in carriers of oculocutaneous albinism.
Br J Ophthalmol
August 2023
Ulverscroft Eye Unit, Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, UK
Background/aims: To investigate the foveal morphology in carriers of oculocutaneous albinism (OCA) using spectral domain optical coherence tomography (SD-OCT). A cross-sectional, observational study.
Methods: Handheld SD-OCT (Envisu C2300) was used to acquire horizontal scans through the centre of the fovea in biological parents of patients with OCA (n=28; mean age±SD=40.
Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia.
Ophthalmic Genet
August 2022
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota, USA.
Background: Septo-optic dysplasia (SOD) is a condition that affects the early development of the brain and eyes. It presents with a combination of optic nerve hypoplasia, brain midline structure abnormalities, and pituitary gland hypoplasia.
Methods: This is a case report of a 4-year-old male who presented with low amplitude horizontal nystagmus and decreased visual acuity 20/60 OU.
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