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Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia-microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. © 2016 Wiley Periodicals, Inc., (© 2016 Wiley Periodicals, Inc.)

Background: The PlusOptix photoscreeners (PlusOptix GmbH, Nuremberg, Germany) is used in many vision screening programs. The purpose of the present study was to further explore the accuracy of the PlusOptix A09 photoscreener in children with ametropia (myopia or hyperopia)., Methods: A total of 70 eyes (35 children) were prospectively included. Before administration with the cycloplegia treatment 1 % cyclopentolate hydrochloride, children underwent refraction measurement with the PlusOptix A09. A refraction was then performed after cycloplegia with either Retinomax hand-held or Nidek autorefractor before and after 3 years old, respectively., Results: The median (interquartile range) age was 58 (18 to 86) months. The mean (SD) spherical equivalent differed between PlusOptix A09 and cycloplegic autorefraction (+0.54 [1.82] D vs +1.06 [2.04] D, p = 0.04). PlusOptix A09 refraction was positively correlated with cycloplegic autorefraction (r = 0.81, p < 0.001) with higher coefficient in myopic than in hyperopic children (r = 0.91, p = 0.0002 and r = 0.52, p = 0.01, respectively). The mean (SD) difference between PlusOptix A09 and cycloplegic autorefraction was higher with hyperopia than myopia (0.73 [1.34] vs 0.05 [0.66], p = 0.01). The proportion of children with < 1-D difference between cycloplegic and PlusOptix A09 refraction was 68.8 %, higher with myopia than hyperopia (90 % vs 54.5 %, p = 0.01)., Conclusion: The spherical equivalent value with non-cycloplegic PlusOptix A09 refraction is closer to that with cycloplegic autorefraction than non-cycloplegic autorefraction. The PlusOptix A09 photoscreener underestimated the hyperopia of 0.73 D and slightly overestimated myopia of 0.05 D. The PlusOptix A09 could be used for screening with higher accuracy in myopic than hyperopic children.

Uveal melanoma is very rare in children, and in both adults and children it can in rare cases develop intralesional cavities resembling an intraocular cyst. The presence of a solid mass at the base and a thick wall surrounding the cavity can assist in differentiating cavitary melanoma from a benign cyst. We report the case of a 5-year-old girl who presented with a large intraocular pigmented mass in the left eye, showing multiple hollow cavities on ocular ultrasonography, CT scan, and MRI. The patient was treated by enucleation and the pathology confirmed the diagnosis of choroidal melanoma. FISH revealed no aberration in chromosome 3.

Purpose: To evaluate the occurrence and inheritance of various types of pigmentary retinopathy in patients followed at the outpatient clinic in the university hospital, Montpellier, France. To characterize genes and mutations causing these conditions., Methods: Ophthalmic examination and various visual tests were performed. Mutations were sought from genomic DNA by PCR amplification of exons associated with single-strand conformation analysis and/or direct sequencing., Results: Among 315 patients over an 8-year period, cases of retinitis pigmentosa (63.2%), Usher's syndrome (10.2%), Stargardt's disease (5.4%), choroideremia (3.2%), Leber's congenital amaurosis (3.2%), congenital stationary night blindness (2.9%), cone dystrophy (2.5%), dominant optic atrophy (1.9%), X-linked juvenile retinoschisis (1.6%), Best's disease (1.6%), and others (4.3%) were diagnosed. In retinitis pigmentosa, inheritance could be determined in 54.2% of the cases including dominant autosomic (26.6%), recessive autosomic (22.6%), and X-linked cases (5%) while it could not be confirmed in 45.7% of the cases (simplex cases in the majority). For the 6 examined genes, mutations were found in 22 out of 182 propositus (12.1%). Analysis of phenotype-genotype correlations indicates that in retinitis pigmentosa, RDS is more frequently associated with macular involvement and retinal flecks, RHO with regional disease, and RPE65 with the great severity of the disease with some cases of Leber's congenital amaurosis., Conclusions: Identification of genes may help in diagnosis and in genetic counseling, especially in simplex cases with retinitis pigmentosa. In this latter condition, molecular diagnosis will be necessary to rationalize future treatments.