Isolated foveal hypoplasia without nystagmus

Giocanti-Aurégan, Audrey; Witmer, Matthew T.; Radcliffe, Nathan M.; D’Amico, Donald J.

doi:10.1007/s10792-014-9900-5

Cited by 10 publications

(4 citation statements)

References 11 publications

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“…32,64,65 This can be associated with or without nystagmus. 64,66,67 Although a specific gene for isolated foveal hypoplasia has not yet been identified, the advent of next generation sequencing has identified specific pathogenic mutations in some of these cases identified as idiopathic previously.…”

Section: Isolated Casesmentioning

confidence: 99%

Normal and abnormal foveal development

et al. 2020

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Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes such as increase in cone cell bodies, cone elongation and packing mainly occur after birth and continue until 13 years of age. The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without albinism (FHONDA) and optic nerve hypoplasia. In achromatopsia, there is disruption of the outer retinal layers with atypical FH. Similarly, in retinal dystrophies, there is abnormal lamination of the IRLs sometimes with persistent IRLs. Morphology of FH provides clues to diagnoses, and grading correlates to visual acuity. The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal children grading FH can help predict future visual acuity.

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Section: Isolated Casesmentioning

confidence: 99%

Normal and abnormal foveal development

et al. 2020

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“…Our patient had no foveal pit, with persistence of all the inner retinal layers and outer plexiform layer, outer nuclear layer widening, and outer segment lengthening in the foveolar area, which makes it a grade 2 with a visual acuity of 20/32 according to Thomas et al [2]. FH and FH are commonly bilateral [4–6]. In our case, the differential diagnosis includes an epiretinal membrane, which may simulate the absence of the foveal pit [7].…”

Section: Discussionmentioning

confidence: 87%

“…Foveal hypoplasia results from a developmental arrest during the steps of foveal formation. It can be isolated or associated with severe conditions such as albinism, aniridia, congenital nystagmus [4], microphthalmos, or others syndromes. Our patient did not show any symptoms of these diseases.…”

Section: Discussionmentioning

confidence: 99%

Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye

et al. 2019

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Patient: Male, 9 Final Diagnosis: Fovea plana Symptoms: Visual acuity loss Medication: — Clinical Procedure: — Specialty: Ophthalmology Objective: Congenital defects/diseases Background: Foveal hypoplasia (FH) is a congenital disorder, generally associated with other conditions. Case Report: A 9-year-old boy presented with moderately decreased vision in the left eye. Fundus examination showed an absence of macular reflection and no foveal pit was seen on optical coherence tomography. Fluorescein angiography demonstrated the absence of a foveal avascular zone. Conclusions: This is a rare case of a unilateral fovea plana associated with a visual impairment.

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“…Certainly we also see that in other subjects (F2:I-1, F4:I-2 and F5:II-2) in our cohort with FH but no nystagmus. Indeed, there are previous reports of FH without nystagmus 14 . This has also been reported in female carriers of GPR143 mutations associated with ocular albinism 15 and in other cases of albinism 9 .…”

Section: Discussionmentioning

confidence: 98%

Discordant phenotypes in twins with infantile nystagmus

Aamir

Kuht

McLean

et al. 2021

Sci Rep

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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 first time the comprehensive assessment of diagnostically discordant monozygotic twins. From a cohort of over 2000 patients, we identified twins and triplets discordant for nystagmus. Using next-generation sequencing, high-resolution infra-red pupil tracking and optical coherence tomography, we characterised differences in genotype and phenotype. Monozygotic twins (n = 1), dizygotic twins (n = 3) and triplets (n = 1) were included. The monozygotic twins had concordant TYR variants. No causative variants were identified in the triplets. Dizygotic twins had discordant variants in TYR, OCA2 and FRMD7. One unaffected co-twin demonstrated sub-clinical nystagmus. Foveal hypoplasia (FH) was noted in four of five probands. Both co-twins of the monozygotic pair and triplets displayed FH. In three families, at least one parent had FH without nystagmus. FH alone may be insufficient to develop nystagmus. Whilst arrested optokinetic reflex pathway development is implicated in IN, discordant twins raise questions regarding where differences in development have arisen. In unaffected monozygotes therefore, genetic variants may predispose to oculomotor instability, with variable expressivity possibly responsible for the discordance observed.

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Isolated foveal hypoplasia without nystagmus

Cited by 10 publications

References 11 publications

Normal and abnormal foveal development

Normal and abnormal foveal development

Fovea Plana in a 9-Year-Old Boy Presenting with Decreased Vision in the Left Eye

Discordant phenotypes in twins with infantile nystagmus

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