Congenital nystagmus is a rare condition mainly characterised by rhythmic, conjugate, and horizontal oscillations of both eyes that persist in the vertical gaze. This disorder is usually noticed in the neonatal period and persists throughout life. It can be of sensory origin, associated with low visual acuity of various causes, or of motor origin, caused by a defect in the slow eye movement system. The former can be genetically determined. It can also be associated with several conditions, the most frequent being albinism. The achiasma syndrome has recently been recognized in two patients as an autosomal recessive inherited cause of congenital nystagmus. We report the case of the so far youngest reported baby having been diagnosed with the isolated achiasmatic condition, which presented with congenital nystagmus and see-saw nystagmus, and discuss its clinical findings and 18 months follow-up. The achiasmatic syndrome should be included in the differential diagnosis of congenital nystagmus, as all the described cases presented like that. Complete investigations should be performed to allow the best evolution and follow-up of these children.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1055/s-2003-42214 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Duane Retraction Syndrome: A Report of Two Cases and Review of Literature.
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 PDFGenotypic and phenotypic analysis of an oculocutaneous albinism patient: a case report and review of the literature.
J 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 PDFIdentification of a novel MAG gene mutation with 22q11.21 microduplication linked to hereditary spastic paraplegia.
BMJ 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 PDFHereditary pontine and extrapontine brain malformations in Brazilian Tabapuã cattle.
Vet 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 PDFThe application of rigid gas permeable contact lenses after surgery for infantile nystagmus syndrome.
Sci 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.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!