Bilateral posterior microphthalmos associated with papillomacular fold and severe hyperopia

La microphtalmie postérieure avec pli papillomaculaire est une anomalie rare. Elle affecte les deux yeux et ne s'accompagne habituellement pas d'autres anomalies oculaires ou générales. Elle se caractérise par un segment postérieur court avec un segment antérieur normal. Nous rapportons le cas d'une fille âgée de 10 ans qui consulte pour une baisse d'acuité visuelle progressive bilatérale, l'examen ophtalmologique des deux yeux retrouve une forte hypermétropie avec une meilleure acuité visuelle corrigée chiffrée à 08/10ème à droite et à 07/10eme à gauche, les segments antérieurs sont normaux, par contre au fond d'œil nous notons un aspect d'une papille pleine non excavée, un pli papillo-maculaire bilatéral, et une périphérie normale. L'échographie oculaire en mode A et B confirme la microphtalmie postérieure. La tomographie en cohérence optique (OCT) montre un aspect d'un pli rétinien de siège papillomaculaire qui intéresse les couches internes de la rétine avec respect des couches externes de la rétine et la choroïde. L'objectif de ce travail est d'analyser les caractéristiques cliniques du segment postérieur de l’œil au cours de la microphtalmie postérieure à travers cette observation et une revue de littérature.

Foveal structure and visual function in nanophthalmos and posterior microphthalmos

Background/aimsThe reason for visual impairment in patients with nanophthalmos and posterior microphthalmos is not completely understood. Therefore, this study aims to investigate foveal structure, and the impact of demographic, clinical and imaging parameters on best-corrected visual acuity (BCVA) in these conditions.MethodsSixty-two eyes of 33 patients with nanophthalmos (n=40) or posterior microphthalmos (n=22), and 114 eyes of healthy controls with high-resolution retinal imaging including spectral-domain or swept-source optical coherence tomography images were included in this cross-sectional case–control study. Foveal retinal layer thickness was determined by two independent readers. A mixed-effect model was used to perform structure–function correlations and predict the BCVA based on subject-specific variables.ResultsMost patients (28/33) had altered foveal structure associated with loss of foveal avascular zone and impaired BCVA. However, widening of outer nuclear layer, lengthening of photoreceptor outer segments, normal distribution of macular pigment and presence of Henle fibres were consistently found. Apart from the presence of choroidal effusion, which had significant impact on BCVA, the features age, refractive error, axial length and retinal layer thickness at the foveal centre explained 61.7% of the variability of BCVA.ConclusionThis study demonstrates that choroidal effusion, age, refractive error, axial length and retinal layer thickness are responsible for the majority of interindividual variability of BCVA as well as the morphological foveal heterogeneity in patients with nanophthalmos or posterior microphthalmos. This might give further insights into the physiology of foveal development and the process of emmetropisation, and support clinicians in the assessment of these disease entities.

Posterior microphthalmos with pigmentary retinopathy

We report a case of 19-year-old man with gradual diminution of vision in both eyes since childhood. His best-corrected visual acuity was 20/160, N16 in the right eye and 20/200, N16 in the left eye. Slit-lamp biomicroscopic examination revealed normal cornea, anterior segment, intraocular pressure and lens. Fundus of both eyes showed crowded optic disc with pigmentary changes. Ancillary tests were performed to aid in the diagnosis. A-scan ultrasound revealed short axial lengths with normal corneal diameter, anterior chamber depth and lens thickness. Optical coherence tomography of both eyes showed inner retinal layer folds. Electroretinogram of both eyes showed extinguished photopic as well as scoptopic responses. A diagnosis of posterior microphthalmos with pigmentary retinopathy was made. The patient was counselled regarding nature of the disease and the condition was managed with low vision aids.

Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits

Purpose: To report a case of posterior microphthalomos (PM) related to PRSS56 gene mutation with long term follow up with multimodal imaging findings. Methods: Single retrospective case report. Results: A 43-year old male patient presented in 2009 with bilateral reduced vision. Clinical examination and multimodal imaging showed features consistent with posterior microphthalmos with prominent bilateral horizontal papillomacular retinal folds. Posterior pole hyperautofluorescent RPE deposits were present. Gradual worsening of visual acuity and rod and cone photoreceptor function more so on the left was demonstrated during the 8 years of follow up. Conclusion: Hyperautofluorescent RPE deposits may occur in patients with posterior microphthalmos and such patient’s may experience only gradual disease progression over long term follow up.