Intracranial extension of an intramuscular haemangioma of superior rectus: case report and literature review.

BACKGROUND: Intramuscular haemangiomas are rare, benign vascular tumours that represent < 1% of all haemangiomas. When involving the extraocular muscles, haemangiomas are extremely rare, with only nine cases reported in the literature; to date there are no reported cases of extraocular muscle haemangiomas extending into the brain. CASE PRESENTATION: A 6-year-old boy with a two-week history of a painless swelling and erythema on the upper eyelid. On examination, the patient had restricted extraocular motility in all directions of gaze. In addition, the eye appeared proptotic, with chemosis and hyperaemia of the conjunctiva. Visual acuity and intraocular pressure were normal. Orbital computed tomography imaging showed a mass in the left superior rectus, with heterogeneous enhancement following contrast administration. Incisional biopsy revealed an intramuscular haemangioma of the superior rectus muscle with capillary-type vessels. The patient received an intralesional steroid, which improved the condition for a few months; however, the lesion later recurred and included an intracranial extension. CONCLUSION: This case represents the first reported case of intracranial extension of intramuscular haemangioma of extraocular muscle.

A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

We present two cases of a novel missense variant mutation in the DHX38 gene, which is associated with autosomal recessive retinitis pigmentosa (RP) in two Saudi sisters who presented with poor visual acuity since childhood. On initial examination, the best-corrected visual acuity was 20/300 in both eyes for the two sisters. Fundus examination revealed widespread retinal pigmentary changes, linear peripheral hyperpigmentation clumps, bone spicules, and bilateral optic nerve drusen with bilateral macular hyperpigmentation. Spectral-domain optical coherence tomography scans reveal losses of the outer retinal layer and the presence of subretinal fibrosis and thinning of the choroid. Molecular sequencing analysis of the DHX38 exome identified a novel missense mutation of the homozygous variant c. 2571 (p. Ala857=), which co-segregates with the autosomal recessive RP gene that encodes the premRNA splicing factor, PRP16. The aim of this report is to describe the clinical feature associated with this variant and to provide additional evidence that DHX38 is involved in RP. To the best of our knowledge, this variant has not been described in the literature.

Glued Intraocular Lens Combined with Endothelial Keratoplasty: A Case Report.

In an aphakic eye with corneal edema, performing Descemet's stripping automated endothelial keratoplasty (DSAEK) combined with implantation of intraocular lens can be a challenge. This case report describes a surgical technique for postsurgical aphakia with endothelial decompensation in a 42-year-old female with Marfan syndrome and subluxated lens. This technique comprised implanting DSAEK with fibrin glue-assisted sutureless posterior chamber intraocular lens. The donor lenticels were formed on a 60-kHz femtosecond laser platform (IntraLase®). Two partial-thickness scleral flaps and sclerotomies were created, and then, the Descemet's membrane was scored and stripped. A posterior chamber intraocular lens was implanted, and its haptics was pulled out through the sclerotomies and tucked beneath the flaps. The flaps were then apposed with fibrin glue. The donor lenticule was introduced to the anterior chamber and unfolded. Air tamponade was used to stabilize and center it. This technique significantly improved the uncorrected and best-corrected visual acuities of the patient, and no donor dislocations were reported. This case corroborates the findings of few similar cases that have found combined use of glued intraocular lens with DSAEK to be beneficial in such cases.