A 12-year-old boy with a history of decreased vision and photophobia since he was 1 year old. Comprehensive clinical and molecular approaches were applied to evaluate his condition by which a detailed ophthalmological examination revealed bilateral isolated foveal hypoplasia with the absence of the avascular zone. Novel homozygous aryl hydrocarbon receptor (AHR) splice site mutation NM_001621.4: c.899_908 + 15del (p.?) was identified and segregated within the family members.
This case represents the first report of autosomal recessive isolated foveal hypoplasia without infantile nystagmus in the literature and the second reported AHR mutation with autosomal recessive isolated foveal hypoplasia post the original cloning paper. Our identified novel splice site AHR mutation supports the pathogenicity of the AHR gene and expands its phenotypic spectrum.

Fovea hipoplazisi, normal foveanın gelişmemesi ile karakterizedir. İzole veya başka oküler durumlarda sekonder olarak gelişebilmektedir. Optik koherens tomografi (OKT), floresein anjiyografi, fundus otofloresans ve OKT anjiyografi tanıda kullanılabilir. Bu olgu sunumunda multimodal görüntüleme ile tanı konulan, foveal hipoplazili bir hastayı sunmaktayız.

Toxoplasmosis gondii is ubiquitously present on earth and infection, including congenital infection, is common. Neurological, developmental, and ocular effects can be devastating in the congenital toxoplasmosis population. At present, there is no standard, nation-wide neonatal screening for this disease in the United States.
A 17-month-old Caucasian female presented to our institution by way of referral for macular scarring. She was diagnosed with intrauterine growth retardation and born with low birth weight and microcephaly at an outside institution, but no systemic workup was conducted at that time. On ocular examination, she was found to have nystagmus and extensive multifocal chorioretinal pigmented scars involving the macula and peripheral retina in both eyes with fibrous vitreous strands extending between scars in the right eye. Toxoplasmosis immunoglobulin G was found to be highly positive. Magnetic resonance imaging of the brain showed supratentorial intracranial calcifications.
Our patient presented with severe chorioretinal lesions, microcephaly, and nystagmus with a positive immunoglobulin G toxoplasmosis titer. She did not receive any evaluation, including TORCH infectious panel workup, on being born with low birth weight and microcephaly. There are currently no national programs in place for toxoplasmosis to be included in routine neonatal screening, despite the grave sequelae of congenital infection or that studies in other countries have shown cost-effectiveness in early screening and treatment.

Foveal hypopalsia (FH) is typically seen in association with diseases like albinism and aniridia, and familial FH (FFH) is very rare. The authors present a case of unique association of FH with dyschromatosis universalis hereditaria (DUH). Family members of this patient had history of nystagmus and dermal pigmentary anomalies, suggesting that this may represent FFH with DUH in X-linked pattern. The authors also discuss the role of pigment anomalies in manifesting as this combination. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:192-195.].

Congenital nystagmus (CN) and congenital cataracts are distinct eye diseases and are usually isolated. Cases with CN and congenital cataracts caused by different genes in one family have been rarely reported.
A 27-year-old man presented with CN and congenital cataracts and he underwent cataract extraction 2 weeks after birth. Three years later, he had posterior chamber intraocular lens implantation. The proband\'s mother was only afflicted by bilateral lens opacities. Lensectomy was performed in both eyes at age 15. The proband\'s daughter had bilateral central cataracts and no nystagmus. She had undergone cataract extraction when she was two months old. In this family, 8 affected individuals were affected by bilateral cataracts, and three of them presented with CN. The genetic analysis was performed using a specific Hereditary Ophthalmological Disease Gene Panel on proband and his parents (one of which was a patient). PCR and Sanger sequencing verified the presence of these variants in all members of the family. The novel mutation, c.498-3C > T, in FRMD7 explains why X-Linked recessive inheritance of CN was found in a subset of patients. A heterozygous mutation of the GJA8 gene (c.139G > C), was identified in all patients and thus explains the autosomal dominant pattern of inheritance of congenital cataracts within the family.
This is the first time that FRMD7 and GJA8 gene mutations have been linked to the pathogenesis of a family with both CN and congenital cataracts. The phenomenon of two different genetic patterns coexisting in one family is rare.

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We report the case of a 12-year-old boy with fovea plana discovered on a systematic work-up. His best-corrected visual acuity was limited to 20/25 in both eyes. Anterior segment examination showed no evidence of iris transillumination or aniridia. Macular OCT revealed persistence of the inner nuclear layers in the foveolar area and an absence of foveal pits, suggesting a diagnosis of fovea plana. Fluorescein angiography revealed that the foveal avascular zone (FAZ) was absent. OCT angiography revealed persistence of the superficial and deep capillary plexi. Our case confirms that OCT angiography affords additional insights into macular exploration and the diagnosis of fovea plana by revealing absence of the foveal pit associated with persistence of both superficial and deep capillary plexi in the foveal area.

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OBJECTIVE: This is the first report, to our knowledge, of a child with torticollis due to saccular dysfunction.
METHODS: An 18-month-old infant with torticollis was referred for postural imbalance and observed rotary nystagmus. The infant had undergone physical therapy treatment of left torticollis for nearly 15 months. Cervical vestibular evoked myogenic potentials (cVEMPs) were recorded to assess saccular function and caloric stimulation and positional and rotational testing were performed to evaluate other vestibular receptors. The child demonstrated abnormal cVEMP findings, with a low-amplitude response on the left, which indicated left-sided saccular dysfunction. The patient\'s rotary-torsional nystagmus suggested positional vertigo secondary to abnormal saccular function.
CONCLUSIONS: This case highlights that saccular dysfunction should be considered when timely resolution of congenital torticollis is not obtained with physical therapy. Early detection of abnormal saccular function in infants and young children with CPT is necessary to ensure appropriate intervention. Further study needs to be done to confirm our findings.

Nystagmus is a condition in which the eyes move in an uncontrolled fashion. These eye movements confound attempts to identify patient fixation, as desired eye positions cannot be maintained. We aim to estimate the eye positions in the case of refixations and superimposed uncontrolled motion. By incorporating saccade detection and resetting our estimation algorithms, we are able to track the nystagmus motion independently of fixation direction. We employ our algorithm on data collected from patients with latent/manifest-latent and pendular nystagmus conditions.