Pleomorphic adenomas of the lacrimal gland may present with duration of symptoms of less than 10 months. Cystic degeneration, squamous metaplasia, calcification or ossification may be observed in lacrimal gland pleomorphic adenomas, as has been described in pleomorphic adenomas of salivary glands. However, the presence of calcification and bone erosion radiologically in a lacrimal gland tumour does not necessarily indicate malignancy.

The main types of maxillary cysts are antral mucoceles, retention cysts, pseudocysts, dentigerous cysts and keratocysts. Despite the theoretical possibility of maxillary sinus cysts leading to nasolacrimal duct obstruction, only two cases have been reported in the literature so far. The present authors report this rare presentation of a dentigerous cyst with a tooth in the roof of the maxillary sinus, which led to nasolacrimal duct obstruction.

Orbital hydatid disease is rare, even in endemic areas. We present a case of disseminated hydatid disease involving the orbit, spleen, lung and liver in a lady aged 35 years. Based on a typical clinical presentation, presence of eosinophilia, a positive indirect haemagglutination test for hydatid disease and presence of similar disseminated, anechoic cystic masses in the liver, lung, spleen and orbit on imaging studies, the diagnosis of hydatid cyst was seriously considered before surgery. Aspiration of the cyst, followed by cryo-extraction of the cyst wall through transconjunctival route was safely performed. Histopathological examination confirmed the diagnosis. In conclusion, multisystemic involvement of liver, lung and spleen in a case of orbital hydatid cyst has never been reported before. The surgical technique adopted in this case is safe and effective.

PurposeRetinitis pigmentosa (RP) is an inherited retinal disorder that results in the degeneration of photoreceptor cells, ultimately leading to severe visual impairment. We characterized a consanguineous family from Southern India wherein an individual in his 20’s presented with night blindness since childhood. The purpose of this study was to identify the causative mutation for RP in this individual as well as characterize how the mutation may ultimately affect protein function.MethodsWe performed a complete ophthalmologic examination of the proband followed by exome sequencing. The identified mutation was then modeled in cultured cells, evaluating its expression, solubility (both by western blot), subcellular distribution (confocal microscopy), and testing whether this variant induced endoplasmic reticulum (ER) stress (qPCR and western blotting).ResultsThe proband presented with generalized and parafoveal retinal pigment epithelial atrophy with bone spicule pigmentation in the mid periphery and arteriolar attenuation. Optical coherence tomography scans through the macula of both eyes showed atrophy of outer retinal layers with loss of the ellipsoid zone, whereas systemic examination of this individual was normal. The proband’s parents and sibling were asymptomatic and had normal funduscopic examinations. We discovered a novel homozygous p.Pro388Ser mutation in the tubby-like protein 1 (TULP1) gene in the individual with RP. In cultured cells, the P388S mutation does not alter the subcellular distribution of TULP1 or induce ER stress when compared to wild-type TULP1, but instead significantly lowers protein stability as indicated by steady-state and cycloheximide-chase experiments.ConclusionsThese results add to the list of known TULP1 mutations associated with RP and suggest a unique pathogenic mechanism in TULP1-induced RP, which may be shared amongst select mutations in TULP1.

Heterotopic brain tissue is a rare entity and it is rarer still in the orbit. There have been very few case reports of orbital ectopic glial tissue. The case is described herein of a 3-month-old baby presenting with an orbital glial hamartoma inseparable from the medial rectus muscle. The diagnosis was based on the histopathological features and a positive GFAP stain. The features of this case and the previously reported cases are discussed.