Case Report
Case Report: Asymmetric Retinal and Fundal Fluorescein Angiogram Findings in Col4A1 Mutation
Yan Tong Koh*
,
Conrad Schmoll
Issue:
Volume 7, Issue 1, March 2026
Pages:
1-4
Received:
7 September 2025
Accepted:
18 September 2025
Published:
23 January 2026
Abstract: Purpose: We aim to describe the fundal fluorescein angiography (FFA) findings in a patient with COL4A1 mutation which to date has not been described in this condition. We hope to highlight the variability in ocular phenotypes seen in COL4A1 mutation, even between eyes in the same patient. Methods: Case Report. Results: A 14 year-old girl with a history of cerebral palsy, cerebral visual impairment and COL4A1 mutation with porencephaly has been attending the eye service for bilateral aphakic glaucoma with previous bilateral glaucoma tube surgery on Latanoprost, Brinzolamide and Timolol to both eyes. She developed a spontaneous right vitreous haemorrhage and anterior chamber hyphaema, subsequently requiring a vitrectomy and anterior chamber washout due to elevated intraocular pressure. Intraoperatively, she was noted to have extensive ischemic changes in the right eye. In her left fundus, there were sclerosed arterioles emanating from the disc, with the rest of the retina being normal. Despite the vitrectomy, the right eye vitreous haemorrhage and hyphaema recollected over time with persistently high intraocular pressure. She underwent a repeat vitrectomy and washout, subsequent cyclodiode laser and evisceration after she developed a painful blind right eye. During the course of her treatment, a FFA for her left eye was performed. Delay in arm-retinal time and a “fern-leaf” pattern of capillary leakage was noted. Discussion: The disease resulting from COL4A1 mutation is extremely variable. We report a patient with COL4A1 mutation with asymmetric retinal pathology with one eye eventually needing evisceration. This case highlights the need to have a high index of suspicion for early detection and asymmetric disease. There should be a low threshold for further evaluation such as FFA or optical coherence tomography (OCT) angiography to evaluate for ocular perfusion. Although COL4A1 is a systemic disease, it can have asymmetric presentation between two eyes.
Abstract: Purpose: We aim to describe the fundal fluorescein angiography (FFA) findings in a patient with COL4A1 mutation which to date has not been described in this condition. We hope to highlight the variability in ocular phenotypes seen in COL4A1 mutation, even between eyes in the same patient. Methods: Case Report. Results: A 14 year-old girl with a his...
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Case Report
A Case Report Highlighting the Impact of Socio-cultural Misunderstandings on Psychiatric Diagnosis
Puja Neupane*,
Shailendra Raj Adhikari
Issue:
Volume 7, Issue 1, March 2026
Pages:
5-8
Received:
30 August 2025
Accepted:
18 September 2025
Published:
30 January 2026
DOI:
10.11648/j.wjmcr.20260701.12
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Abstract: Psychiatric diagnoses are often shaped not only by patient-reported symptoms but also by the clinician’s interpretation, and both processes are highly influenced by sociocultural context. This case report describes a 52-year-old woman who was initially diagnosed with Bipolar Affective Disorder (BPAD) despite the absence of clear evidence for manic or hypomanic episodes. Her presenting symptoms primarily included persistent insomnia, restlessness, and multiple somatic complaints, which on the surface appeared complex and difficult to categorize. However, upon hospital admission and through careful, repeated evaluation, it was revealed that her difficulties were more closely linked to chronic stress arising from long-standing familial obligations, social responsibilities, and culturally ingrained expectations rather than from an underlying bipolar condition. Over time, her diagnosis was revised to a depressive episode, and with appropriate treatment she demonstrated marked improvement in sleep, mood, energy, and overall functioning. This case vividly illustrates how cultural norms, coping mechanisms, and socially reinforced patterns of expressiveness can sometimes be misinterpreted as psychopathology, thereby complicating clinical judgment. In her situation, emotional expressiveness, resilience in dealing with family burdens, and heightened involvement in social roles were mistakenly viewed as indicators of bipolar illness. Such misinterpretations underscore the danger of overlooking cultural context, which may result in diagnostic errors, unnecessary stigma, ineffective treatment plans, and prolonged patient suffering. The case therefore emphasizes the critical importance of adopting a culturally informed approach in psychiatric assessments, one that seeks to carefully distinguish between genuine psychopathological symptoms and behaviors that are normative, adaptive, or culturally shaped. By systematically integrating cultural and social understanding into diagnostic evaluations, clinicians can enhance diagnostic accuracy, avoid mislabeling, and ensure that treatment strategies are both individualized and therapeutically effective. Ultimately, culturally sensitive assessments contribute to improved mental health outcomes, strengthen the therapeutic alliance, and foster a more compassionate model of psychiatric care.
Abstract: Psychiatric diagnoses are often shaped not only by patient-reported symptoms but also by the clinician’s interpretation, and both processes are highly influenced by sociocultural context. This case report describes a 52-year-old woman who was initially diagnosed with Bipolar Affective Disorder (BPAD) despite the absence of clear evidence for manic ...
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