Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB). This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.
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http://dx.doi.org/10.2147/OPTH.S14291 | DOI Listing |
Cureus
November 2024
Department of Ophthalmology, College of Medicine, University of Bisha, Bisha, SAU.
Stilling-Duane syndrome, a congenital condition characterized by aberrant innervation of the lateral rectus muscle and agenesis of the abducent nerve or its nucleus, results in limited horizontal eye movements. It is often misdiagnosed as acquired abducent nerve paralysis. This report highlights the importance of considering Stilling-Duane syndrome in differential diagnoses.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Affiliated People's Hospital, Northwest University, Xi'an, 710004, Shaanxi, China.
Background: Oculocutaneous albinism is a rare autosomal recessive disorder caused by congenital melanin deficiency, resulting in hypopigmentation of the eyes, hair, and skin. This study included a Chinese family with an oculocutaneous albinism pedigree, in which the proband presented with oculocutaneous albinismcombined with secondary angle closure, which has been rarely reported in previous literature. This article primarily focused on the clinical and genetic examination results of this patient and provided recommendations for ophthalmologist to treat patients with oculocutaneous albinism in clinical practice.
View Article and Find Full Text PDFBMJ Case Rep
December 2024
Paediatrics, Topiwala National Medical College & B. Y. L. Nair Charitable Hospital, Mumbai, Maharashtra, India
Diagnosing hereditary spastic paraplegia (HSP) in paediatric patients can be challenging, especially when there is no positive family history. Children are often initially misdiagnosed with cerebral palsy due to the gradual progression of the disease and non-specific neuroimaging findings, despite the absence of perinatal insult. This misdiagnosis can prevent timely prenatal diagnosis, limiting the ability to make informed decisions about the pregnancy and to plan early interventions.
View Article and Find Full Text PDFVet Pathol
December 2024
Universidade Federal da Bahia, Salvador, Brasil.
A congenital neurologic disorder affected a herd of Tabapuã cattle. Of 98 newborn calves, 12 (12%) were affected; they were sired by 3 related bulls. This frequency suggested a genetic disorder caused by an autosomal recessive gene.
View Article and Find Full Text PDFSci Rep
November 2024
Changsha Aier Eye Hospital, Changsha, 410015, Hunan Province, China.
The purpose of this study is to investigate the improvement in visual acuity when applying Rigid Gas Permeable Contact Lenses (RGPCL) compared to spectacles in patients after surgical treatment for infantile nystagmus syndrome (INS). A total of 33 patients with nystagmus who had nystagmus surgery from October 2020 to July 2021 were enrolled and all were fitted RGPCL. SPSS statistical software was used to analyze the difference between best-corrected visual acuity with spectacle(BCSVA) and best-corrected visual acuity with RGPCL (BCRVA) in these patients.
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