Complex Ophthalmic Case Study at TOSCON 2024: Weill-Marchesani Syndrome and Ichthyosis Co-occurrence
A detailed case study presented at the 9th Annual State Ophthalmological Conference (TOSCON) in 2024, featuring a 35-year-old female patient with Weill-Marchesani Syndrome (WMS) and Ichthyosis. The rare combination of these genetic conditions poses unique challenges in ophthalmic management, with manifestations including short stature, joint stiffness, eye issues like microspherophakia, and severe myopia. The patient also experienced skin complications such as dryness and scaly skin. Management involved glaucoma surgery, cornea transplant, and ongoing skin care. Family history revealed similar complaints in a deceased sibling.
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Manoj Mathur E-Poster 9thAnnual State Ophthalmological Conference TOSCON 2024 12thto 14thJuly, 2024 at Katriya Hotel & Towers, Hyderabad ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) Co-Author : Dr Superna Mahendra (Civil Surgeon Glaucoma) Disclaimer: Informed consent was obtained from patient to use of records, photographs for academic purpose.
ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) 9th Annual State Ophthalmological Conference TOSCON 2024 12th to 14th July, 2024 at Katriya Hotel & Towers, Hyderabad INTRODUCTION: Case involves a 35-year-old female patient seeking visual handicap certificate Genetic analysis revealed Weill-Marchesani syndrome (WMS) and Ichthyosis WMS, a rare connective tissue disorder, presents with short stature, brachydactyly, joint stiffness, and eye issues like microspherophakia and severe myopia, potentially leading to significant visual impairment if untreated Ichthyosis, a genetic skin disorder, features dry, scaly skin and ocular complications such as blepharitis, ectropion, and exposure keratitis The co-occurrence of these syndromes poses unique management challenges, identify and address potential severe ophthalmic conditions
ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) 9th Annual State Ophthalmological Conference TOSCON 2024 12th to 14th July, 2024 at Katriya Hotel & Towers, Hyderabad METHODS AND MATERIALS: She was born of a non-consanguineous marriage, presented with developmental delay, short stature, alopecia, hypertrichosis, Raynaud's phenomenon, erythematous dermatitis, pressure sensitivity. She had a history of glaucoma surgery and cornea transplant. She is using emollients to prevent her skin from cracks. Similar complaints in her deceased sibling.
ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) 9th Annual State Ophthalmological Conference TOSCON 2024 12th to 14th July, 2024 at Katriya Hotel & Towers, Hyderabad RIGHT EYE LEFT EYE BE GONIO : Open angles ATN:- RE-12 mmHg LE-10 mmHg VISION 6/60 NIF Ectropion, blepharitis + Muddy S/P PRK with severe dry eye Normal depth 6/36 with pinhole 6/24 Ectropion, blepharitis + Muddy Severe dry eye Normal depth LIDS CONJ CORNEA RE-HVF Not reliable AC IRIS PI patent @ 10 o clock RAPD Aphakia Media clear, 0.5:1 CDR Tilted disc, Rim pallor+ +1.00/+1.50 *30 PI patent @ 2 o clock Round, Regular , Reacting PCIOL+ Media clear, 0.6:1 CDR Tilted disc, Inferior notch+ -1.50/-1.75*70 PUPIL LENS FUNDUS LE-HVF Correlating with fundus findings AR VALUES DIAGNOSIS : (RE) Glaucoma in Aphakia s/p PRK (LE) Glaucoma in Pseudophakia s/p LPI (BE) With Weill-Marchesani syndrome and Ichthyosis.
ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) 9th Annual State Ophthalmological Conference TOSCON 2024 12th to 14th July, 2024 at Katriya Hotel & Towers, Hyderabad DISCUSSION: 1. ADAMTS17-- Weill-Marchesani 4 syndrome, recessive (OMIM#613195) CERS3, CERS3-AS1 Ichthyosis, congenital, autosomal recessive 9 (OMIM#615023) The genetic basis of these syndrome s need early genetic counseling Ophthalmic manifestations of WMS glaucoma require regular eye exams Ichthyosis-related ocular issues, such as blepharitis and ectropion, demand vigilant management 2.
ITS ALL IN GENE DATABASE Author : Dr Ragam Chaitanya Lahari (Junior Resident, SDEH) 9th Annual State Ophthalmological Conference TOSCON 2024 12th to 14th July, 2024 at Katriya Hotel & Towers, Hyderabad CONCLUSION: Incidence data for WMS, particularly when associated with ichthyosis, is sparse. However, it is known that WMS alone is a rare disorder with a prevalence of less than 1 in 1,000,000 globally Increased awareness and understanding of these rare genetic conditions are essential for advancing clinical practice Ongoing research and case studies will contribute to better management strategies and therapeutic advancements for patients with these unique genetic profiles Thankyou!
