Results 161 to 170 of about 1,452,519 (228)

IF201a Temporal Cupping with Dominant Hereditary Optic Atrophy

1969. Dominant hereditary optic atrophy (Kjer) Pair with IF2_1b. Right eye. Boy with reduced central acuity since childhood. Discs are pale temporally and the temporal nerve fiber layer is thin. Anatomy: Optic disc.
William F. Hoyt, MD
core  

ATP1A3-related syndromes: our case-series unveiling a dynamic, fever-triggered and overlapping array of neurological phenotypes. [PDF]

Neurol Sci
Errichiello G, Bernardo P, Acquaviva F, Troisi S, Rosa M, Bargiacchi G, Esposito F, Rubino A, Carotenuto M, Varone A, D'Acunto L.   +10 more
europepmc   +1 more source

Rhesus macaques with an <i>OPA1</i> mutation demonstrate features of autosomal dominant optic atrophy. [PDF]

Proc Natl Acad Sci U S A
Jaggers TN, Ripolles-Garcia A, Moshiri A, Story BD, Wang J, Chen R, Moore LG, Teixeira LBC, Shim J, Raposo AC, Casanova MI, Le SM, Park S, Young LJ, Kim S, Roszak KP, Ureno V, Karpinen PM, Echeverria N, Ardon M, Leonard BC, Knipe M, Bliss-Moreau E, Fortune B, Stout JT, Rogers J, Marsh-Armstrong N, Thomasy SM.   +27 more
europepmc   +1 more source

IF201b Temporal Cupping with Dominant Hereditary Optic Atrophy

1969. Dominant hereditary optic atrophy (Kjer) Pair with IF2_1a. Left eye. Boy with reduced central acuity since childhood. and the temporal nerve fiber layer is thin. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy. Disease/ Diagnosis:
William F. Hoyt, MD
core  

The Hidden Face of Rickets: Unmasking Osteopetrorickets in a 2-Month-Old Infant. [PDF]

J Paediatr Child Health
Yılmaz AF, Büyükinan M, Çömlek FÖ, Buğrul F, Sancak E, Karslı B.   +5 more
europepmc   +1 more source

IF205b Temporal Cupping with Dominant Hereditary Optic Atrophy

1970. Left eye. Pair with IF2_5a. 55 year old woman with deficient vision all her life. Typical pattern of dominant hereditary atrophy. Temporal pallor and shallow cupping. Anatomy: Optic disc. Pathology: Dominant hereditary optic atrophy.
William F. Hoyt, MD
core  

Characteristic MRI pattern in <i>LMNB1</i>-related autosomal dominant leukodystrophy: a case report. [PDF]

Front Neurosci
Wang YX, Du T, Yang CL, Zhang M, Duan RS.   +4 more
europepmc   +1 more source

Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD. [PDF]

Clin Case Rep
Sultana N, Mamun AA, Begum A.
europepmc   +1 more source

Impact of Inner Retinal Layer Thinning on Visual Function in OPA1 Autosomal Dominant Optic Atrophy and Associations With Age and Genetic Variant Class. [PDF]

Invest Ophthalmol Vis Sci
Schrittwieser J, Reitner A, Kircher K, Bertich M, Stapf C, Lilja SV, Paquay A, Reiter GS, Bittner RE, Schmidt WM, Pemp B.   +10 more
europepmc   +1 more source

Subtle hypometabolism on [¹⁸F]FDG-PET, yet absent [¹²³I]FP-CIT SPECT binding in a patient with spastic paraplegia type 7. [PDF]

EJNMMI Rep
Henssen D, Radder DLM, Snijders AH, Arens AIJ.   +3 more
europepmc   +1 more source