Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report.

Background: Stickler syndrome (STL) is a collagenopathy caused by pathogenic variants in collagen-coding genes, mainly COL2A1 or COL11A1 associated with Stickler syndrome type 1 (STL1) or type 2 (STL2), respectively. Affected individuals manifest ocular, auditory, articular, and craniofacial findings in varying degrees. Previous literature and case reports describe high variability in clinical findings for patients with STL.

Diversity and phylogenetic relationships of haemosporidian and hemogregarine parasites in Australian lizards.

Apicomplexa is a large monophyletic phylum of unicellular, parasitic organisms. Reptiles are hosts to both haemosporidian (Haemosporida) and hemogregarine (Eucoccidiorida) apicomplexan blood parasites. Within reptiles our understanding of their diversity remains limited, with a paucity of information from Australia, despite a high diversity of squamates (snakes and lizards).

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

Aim: Late infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease is a rare neurodegenerative disorder presenting in children aged 2-4 years with seizures and loss of motor and language skills, followed by blindness and death in late childhood. Initial presenting features are similar to a range of common epilepsies. We aim to highlight typical clinical and radiological features that may prompt diagnosis of CLN2 disease in early disease stages.

Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.

Background: Stickler syndrome is a collagenopathy caused by mutations in the genes COL2A1 (STL1) or COL11A1 (STL2). Affected patients manifest ocular, auditory, articular, and craniofacial manifestations in varying degrees. Ocular symptoms include myopia, retinal detachment, cataract, and glaucoma.

Intravitreal Injections with Vascular Endothelial Growth Factor Inhibitors: A Practical Approach.

Intravitreal injections with vascular endothelial growth factor inhibitors constitute the most prevalent ophthalmic procedure in developed countries. Historically, there has been steady growth in the number of treatments performed of this kind, and projection studies estimate further growth in such treatments in the future. We provide a practical approach to intravitreal injections and discuss important aspects relating to the setting, the patient, the procedure, and the information given to the patient.