Retinal microstructures are altered in patients with idiopathic infantile nystagmus
Sign Up to like & getrecommendations! Published in 2017 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-017-3713-y
Abstract: PurposeTo compare segmented retinal layer thicknesses between patients with idiopathic infantile nystagmus (IIN) and controls.MethodsThis retrospective case-control study included 66 patients with IIN and 66 age-matched controls. The retinal layers were examined using spectral domain… read more here.
Keywords: infantile nystagmus; layer; idiopathic infantile; iin ... See more keywords
Discordant phenotypes in twins with infantile nystagmus
Sign Up to like & getrecommendations! Published in 2021 at "Scientific Reports"
DOI: 10.1038/s41598-021-82368-0
Abstract: Infantile nystagmus (IN) may result from aetiologies including albinism and FRMD7 mutations. IN has low prevalence, and twins with IN are rare. Whilst discordant presentation has been previously reported for IN, we present for the… read more here.
Keywords: discordant phenotypes; monozygotic twins; infantile nystagmus; twins infantile ... See more keywords
Infantile nystagmus without overt eye abnormality: Early features and neuro‐ophthalmological diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Developmental Medicine and Child Neurology"
DOI: 10.1111/dmcn.15284
Abstract: To analyse the neuro‐ophthalmological data of children referred for further work‐up of infantile nystagmus where ophthalmological evaluation had not achieved a diagnosis. read more here.
Keywords: diagnosis; overt eye; without overt; infantile nystagmus ... See more keywords
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus—Management and molecular diagnostics
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.977806
Abstract: Idiopathic infantile nystagmus (IIN) is an inherited disorder occurring in the first 6 months of life, with no underlying retinal or neurological etiologies and is predominantly caused by mutations in the FRMD7 gene. IIN poses… read more here.
Keywords: idiopathic infantile; infantile nystagmus; study pediatric; prospective study ... See more keywords
Spontaneous Nystagmus in the Dark in an Infantile Nystagmus Patient May Represent Negative Optokinetic Afternystagmus
Sign Up to like & getrecommendations! Published in 2018 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2018.00151
Abstract: Abnormal projection of the optic nerves to the wrong cerebral hemisphere transforms the optokinetic system from its usual negative feedback loop to a positive feedback loop with characteristic ocular motor instabilities including directional reversal of… read more here.
Keywords: infantile nystagmus; negative optokinetic; optokinetic afternystagmus; nystagmus dark ... See more keywords
Recession-Resection of the Vertical Rectus Muscles for Chin-up Vertical Abnormal Head Position Associated With Infantile Nystagmus Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20220216-02
Abstract: PURPOSE To review the correction of chin-up abnormal head position (AHP) due to infantile nystagmus syndrome via surgery on the vertical rectus muscles, typically a combined recession-resection of these muscles. METHODS This was a review… read more here.
Keywords: nystagmus syndrome; rectus muscles; rectus; recession ... See more keywords
A new gene mutation in a family with idiopathic infantile nystagmus
Sign Up to like & getrecommendations! Published in 2021 at "Saudi Journal of Ophthalmology"
DOI: 10.4103/1319-4534.325787
Abstract: Idiopathic infantile nystagmus (IIN) is an inherited disease, which can occur through a number of different inheritance patterns (autosomal dominant, recessive, or X-linked). The most common of these is X-linked inheritance with incomplete penetrance and… read more here.
Keywords: infantile nystagmus; family; idiopathic infantile; gene ... See more keywords