Unique and progressive retinal degeneration in a patient with cancer associated retinopathy.

Purpose: To report clinical course of a patient with cancer-associated retinopathy (CAR) medicated by steroid therapy, focusing on retinal degeneration progression.

Observations: A 67 years-old female patient, who had a surgical history of endometrial carcinoma with adjuvant chemotherapy, was referred to our hospitals for the complaints of sudden reduced visual acuity and visual field constriction in the right eye. Best corrected visual acuity (BCVA) was 0.

Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.

Purpose: To report a patient with thymoma-associated retinopathy presenting as having a good visual prognosis.

Methods: Case report and literature review.

Case Report: A 42-year-old female patient was referred to our hospital for complaints of sudden visual-field defects bilaterally.

Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function.

HRG4 (UNC119) is a photoreceptor protein predominantly localized to the photoreceptor synapses and to the inner segments to a lesser degree. A heterozygous truncation mutation in HRG4 was found in a patient with late onset cone-rod dystrophy, and a transgenic (TG) mouse expressing the identical mutant protein developed late onset retinal degeneration, confirming the pathogenic potential of HRG4. Recently, the dominant negative pathogenic mechanism in the TG model was shown to involve increased affinity of the truncated mutant HRG4 for its target, ARL2, which leads to a delayed decrease in its downstream target, mitochondrial ANT1, mitochondrial stress, synaptic degeneration, trans-synaptic degeneration, and whole photoreceptor degeneration by apoptosis.

Truncation mutation in HRG4 (UNC119) leads to mitochondrial ANT-1-mediated photoreceptor synaptic and retinal degeneration by apoptosis.

Purpose: To characterize the time course of apoptosis and degeneration in a transgenic mouse model of retinal degeneration based on truncated mutant HRG4; to investigate the nature of binding of the mutant HRG4 to its target, ADP-ribosylation factor-like (ARL)2; to study its effects on the downstream molecules Binder-of-ARL2 (BART) and adenine nucleotide transporter (ANT)-1 and on the induction of apoptosis.

Methods: Saturation binding, microscopic morphometric, Western blot, immunofluorescence, and TUNEL analyses were used.

Results: Increased apoptosis did not occur until 20 months in the transgenic retina, consistent with the delayed-onset degeneration in this model.