Straatsma Syndrome and cataract: case report and review of the literature.

Straatsma Syndrome is known as unilateral myopia, amblyopia, and myelinated retinal nerve fibers (MRNF). The syndrome can be associated with other findings such as nystagmus, strabismus, and optic nerve hypoplasia among others. However, no cases associated with cataract have been reported.

Toxicity to intravitreal melphalan in a patient with retinoblastoma.

Description of melphalan's toxicity in retinoblastoma treatment. Clinical case report. We presented a case of unilateral retinoblastoma with vitreous seeding at diagnosis, in which the use of intravitreal melphalan produced many adverse reactions.

Use of plasma rich in growth factors (PRGF-Endoret®) fibrin membrane to cover corneal dellen.

Corneal dellen appeared as a complication after perilimbal conjunctival papilloma dissection in a six-year-old patient. Our purpose was to describe the use of plasma rich in growth factors (PRGF) fibrin membrane in covering the corneal defect after conventional medical treatment failure. PRGF fibrin membrane is an interesting therapeutical option to consider not only in adult patients, but also in children.

Mitochondrial developmental encephalopathy with bilateral optic neuropathy related to homozygous variants in IMMT gene.

IMMT gene codes for mitofilin, a mitochondrial inner membrane protein that regulates the morphology of mitochondrial cristae. The phenotype associated with mutations in this gene has not been yet established, but functional studies carried out show that its loss causes a mitochondrial alteration, both in the morphology of the mitochondrial crests and in their function. We present two cousins from an extended highly consanguineous family with developmental encephalopathy, hypotonia, nystagmus due to optic neuropathy.

Ocular loiasis affecting a child and its assessment by Anterior Segment Optical Coherence Tomography.

A 9-year-old girl from Equatorial Guinea presented to the emergency department complaining of foreign body sensation in her right eye. A thin and large, translucent, slowly moving, coiled worm was observed underneath the conjunctiva. Anterior segment optical coherence tomography revealed hyperreflective small areas surrounded by larger hyporeflective areas into the subconjunctival space.

Diagnosis and Treatment Options for Achromatopsia: A Review of the Literature.

Achromatopsia is a complex inherited retinal disease that affects the cone cell function. It is usually an autosomal-recessive disease and is characterized by pendular nystagmus, poor visual acuity, lack of color vision, and marked photophobia. CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6 gene mutations have been identified as associated with this disease.

Spontaneous closure of traumatic macular hole in a pediatric patient.

We present the case of a 14-year-old boy with ocular trauma and the complete eye-tracking OCT imaging follow-up of the development and later spontaneous closure of a secondary macular hole.