Analysis of long-term (34 years) observation of a patient with ophthalmological manifestations of Grenblad–Strandberg syndrome

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The prognosis for the life of patients with genetic pathology depends on the interaction between specialists from different areas of medicine for timely detection and selection of treatment tactics. Pseudoxanthoma elasticum (Grenblad–Strandberg syndrome) is a hereditary disease in which elastic fibers of the skin, the cardiovascular system and the retina are affected. Clinical manifestations: skin changes in Grenblad–Strandberg syndrome are represented by flat xanthomatous nodules of yellowish color. Cardiovascular manifestations of pseudoxanthoma elasticum are angina pectoris, decreased pulse amplitude, cardiomyopathy, sudden heart failure, often leading to death. Eye disorders occur in stages. For the early stages, the appearance of angioid streaks is typical, which appear as a result of calcification of elastic fibers of capillaries. The progression of the process leads to neovascularization and hemorrhages from the choriocapillaries, the formation of a subretinal neovascular membrane of foveolar localization, causing a decrease in vision. The late stages are characterized by scarring. Therapy depends on the stage and rate of progression of the disease and is effective at stages I–II (according to Vivaldi). Own clinical observation: Male patient, 71 years old, referred for cataract surgery with the diagnosis “Both eyes: Senile cataract, open-angle glaucoma, (stage I a, under beta-blocker therapy), Grenblad–Strandberg syndrome”. Attention is drawn to the long observation period — 34 years, with documented data from the first examinations in 1989 and all subsequent ones. Of particular interest is the availability of preserved patient documentation for all years of follow-up, including diagnosis and treatment.

作者简介

Anton Sharma

North-Western State Medical University named after I.I. Mechnikov

编辑信件的主要联系方式.
Email: saa98@mail.ru
ORCID iD: 0000-0003-4849-7004
SPIN 代码: 1166-3917
Scopus 作者 ID: 58181373600
俄罗斯联邦, Saint Petersburg

Nataliya Zumbulidze

North-Western State Medical University named after I.I. Mechnikov

Email: zumbulenok@mail.ru
ORCID iD: 0000-0002-7729-097X
SPIN 代码: 4439-8855

MD, Cand. Sci. (Medicine), Assistant Professor

俄罗斯联邦, Saint Petersburg

Ernest Boyko

North-Western State Medical University named after I.I. Mechnikov; S.N. Fyodorov Eye Microsurgery Federal State Institution, Saint Petersburg Branch

Email: Boiko111@list.ru
ORCID iD: 0000-0002-7413-7478
SPIN 代码: 7589-2512
Scopus 作者 ID: 34067475000

MD, Dr. Sci. (Medicine), Professor

俄罗斯联邦, Saint Petersburg; Saint Petersburg

Anatoliy Kononov

North-Western State Medical University named after I.I. Mechnikov

Email: 7435020@gmail.com
ORCID iD: 0000-0002-4673-5024
俄罗斯联邦, Saint Petersburg

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2. Fig. 1. Ophthalmological examination from 04/19/1989. Both eyes — initial complicated cataract, peripheral chorioretinitis in the scarring phase, retinal degeneration of the “angioid streaks” type

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3. Fig. 2. Images in the IR and AutoFluo modes on the Heidelberg Engineering device. There is an expansion of the area of atrophy. The top row is from 2009, the bottom row is from 2013

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4. Fig. 3. Kinetic perimetry data, 2023

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5. Fig. 4. Color Fundus Photo the right and left eyes, respectively. 2023 Obtained using TOPCON 3D OCT-1 Maestro2

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6. Fig. 5. ONH and RNFL analysis of each eye, Optic Disc Cube 200×200. Extension of the Optic Nerve Head cup of the right eye: average C/D 0.81; left eye: average C/D 0.80. Obtained using ZEISS CIRRUS 5000

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7. Fig. 6. The destroyed complex “pigment epithelium–Bruch’s membrane”, subretinal fibrosis with extensive atrophy of the Retinal Pigment Epithelium: a — right eye; b — left eye. Obtained using TOPCON 3D OCT-1 Maestro 2

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8. Fig. 7. Photo of the patient’s dermatoscopy, 04/24/2023. Check-up by a dermatovenerologist at the Medical and Preventive Center of the North-Western State Medical University named after I.I. Mechnikov, PhD (Mеd), Assistant Professor A.A. Vashkevich. Isolated small papules of yellowish-beige color and of normal skin color are outlined

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