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Posterior Polymorphous Corneal Dystrophy Coexisting with Central Serous Chorioretinopathy – Case Report

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Posterior Polymorphous Corneal Dystrophy Coexisting with Central Serous Chorioretinopathy – Case Report https://doi.org/10.5114/ko.2019.89732 PRACE KAZUISTYCZNE (26) Posterior Polymorphous Corneal Dystrophy Coexisting with Central Serous Chorioretinopathy – Case Report Dystrofia polimorficzna tylna współistniejąca z centralną chorioretinopatią surowiczą – opis przypadku Barbara Sabal Ophthalmic Ward, John Paul II Municipal Hospital, Rzeszow, Poland Head: Antoni Bąk MD, PhD Abstract: Posterior polymorphous corneal dystrophy is a rare, usually bilateral and asymmetric corneal genetic disorder with wide clinical manifestation. Central serous chorioretinopathy is common nonsurgical retinal disorder. Etiology, risk factors, pathomechanism of discussed diseases are not completely clear. We describe a case of unusual coexistence of these disease entities in a mid- dle-aged woman and its potential association. Key words: posterior polymorphous corneal dystrophy, central serous chorioretinopathy, optical coherence tomography, fundus fluorescein angiography. Abstrakt: Dystrofia polimorficzna rogówki jest rzadkim, najczęściej obustronnym i asymetrycznym genetycznym schorzeniem rogówki o różnorodnym obrazie klinicznym. Centralna chorioretinopatia surowicza jest częstym, niewymagającym leczenia chirurgicznego schorzeniem siatkówki. Etiologia, czynniki ryzyka i patomechanizm omawianych chorób są nie do końca poznane. W poniższym opracowaniu omówiony został przypadek pacjentki, u której podczas badania okulistycznego wykryto niespotykane współistnie- nie powyższych jednostek chorobowych oraz ich potencjalny związek. Słowa kluczowe: dystrofia polimorficzna tylna rogówki, centralna chorioretinopatia surowicza, optyczna koherentna tomografia, angiografia fluore- sceinowa. The authors declare no conflict of interest/ Autorzy zgłaszają brak konfliktu interesów w związku z publikowaną pracą Introduction Central serous chorioretinopathy (CSCR) has been estimated Posterior Polymorphous Corneal Dystrophy (PPCD) is a rare, as the fourth most common retinopathy (after age-related ma- bilateral, corneal endothelial disorder with autosomal dominant cular degeneration, diabetic retinopathy and branch retinal vein or recessive inheritance. The disease was first described by occlusion). CSCR occurs six times more frequently in men than in Koeppe in 1916. Due to the abnormal cellular metabolism, the women, usually in age ranges of 20 to 50 (4). The disease is de- corneal endothelium produces a defective basement membra- fined as a serous detachment of the neurosensory retina or reti- ne. PPCD is characterized by polymorphous alterations in cor- nal pigment epithelium most commonly occurring in the macular neal endothelium and in thickened, abnormal Descemet’s mem- region. As a consequence, the accumulated macular subretinal brane. The disease can be detected by slit-lamp examination, fluid causes the reduction of visual acuity. The presented symp- specular and confocal microscopy or anterior segment optical toms depend on the location and amount of fluid. If the central coherence tomography (1, 2). retinal region is affected, a patient can complain of acute change Most patients are asymptomatic and the disease is sta- in visual acuity, decreased contrast sensitivity, colour saturation, ble, however some complain about photophobia, decreasing metamorphopsia, micropsia, hyperoptic shift, central scotoma (5, vision and dry eyes, even the corneal oedema can develop as 6). CSCR is classified to acute, recurrent or chronic form (more a result of faulty endothelium. Mutations in OVOL2, COL8A2, than 6 months) (4). In the literature, the first description of CSCR ZEB1 gene have been identified as causing PPCD. The disease was made by Von Graefe in 1866 (7). Since then, the understan- can be associated with many ocular abnormalities, including ding of the pathophysiology of this condition and its natural co- stromal and epithelial oedema, keratoconus, iridocorneal adhe- urse has changed, thanks to the rapid development of imaging sions with peripheral anterior synechiae, corectopia, pupillary methods (4). However, the pathogenesis is still to be fully un- ectropion, increased intraocular pressure. Concomitant extra- derstood and no responsible pathophysiologic mechanisms have ocular conditions are abdominal hernias and Alport syndro- been proven. The choroidal hyperpermeability and consequent me (3). subretinal fluid accumulation with retinal pigment epithelium da- ISSN 0023-2157 Index 362646 Klinika Oczna 2019, 121 (3) Posterior Polymorphous Corneal Dystrophy Coexisting with Central Serous Chorioretinopathy – Case Report mage could be induced by glucocorticoids, catecholamines and increased sympathetic activities. Common risk factors include steroid usage, type A personality, pregnancy, obstructive sleep apnoea, Helicobacter pylori infection and oxidative stress. The acute form of CSCR is usually self-limited and resolves sponta- neously within 2 to 3 months. The treatment options including observation with risk factors modification, carbonic anhydrase inhibitor or anisteroidal drugs therapy, micropulse laser photo- coagulation, photodynamic therapy, anti-vascular endothelial growth factor (anty-VEGF) therapy (4). In this paper, we report the case of concomitant PPCD and CSCR in a middle-aged, previously untreated woman. The aim of this case is to find the probable association between PPCD and CSCR, including the review of the current literature. To the best of our knowledge, this is the first report of patient with coexisting PPCD and CRCS. Fig. 1. Slit-lamp photos. Ectropion uveae of the right (A) and left (B) eye. Grey-white opacities, scattered vesicles and “beaten me- Case report tal” appearance at the level of Descemet’s membrane and cor- neal endothelium of the right (C) and left (D) eye. A 52-years-old, previously healthy woman was presented to Ryc. 1. Zdjęcia w lampie szczelinowej. Wywinięcie listka barwniko- the Ophthalmic Ward at the Municipal Hospital in Rzeszow due wego tęczówki w oku prawym (A) i lewym (B). Szaro-białe to visual impairment in the left eye persisting for three days. zmętnienia, rozsiane pęcherzyki i obraz „kutego metalu” na The patient complained of a large, dark spot in the central vision poziomie błony Descemeta i śródbłonka rogówki oka prawe- of her left eye. She described her vision as being yellowish- go (C) i lewego (D). -brown. The woman denied any ocular pain, floaters or flashes. The patient reported no trauma to the eye region. The ocular history was not significant. She denied chronic diseases, did not take any medication and was operated on uterine myomas in the past. Family history was negative for ocular diseases, ho- wever we have not examined other family members. On admission, a complete ophthalmic examination was performed, including refraction test, applanation tonometry, slit- -lamp biomicroscopy, pachymetry, specular microscopy (Tomey EM-3000), colour fundus photographs, fluorescein angiography (Zeiss FF 450 plus Fundus Camera with VISUPAC™ Digital Ima- ging System), anterior segment, macula and disc optical cohe- rence tomography (Spectral Domaine Optopol Revo NX OCT), ultrasound of the both eyes (Quantel Medical Aviso S). On ocular examination, best corrected visual acuity (BCVA) was 1.0 in the right eye and 0.6 in the left eye with a hyperopic correction (+3.75 D and +4.25 D, respectively). The corrected in- traocular pressure was measured at 12.8 mmHg in the right eye and 11.7 mmHg in the left eye by applanation tonometer. Slit-lamp Fig. 2. Color fundus photographs. Retinal pigment epithelium degene- ration nasal to the fovea in the right (A) eye. Serous macular examination revealed bilateral corneal horizontal lesions, vesicles detachment at the posterior pole in the left (B) eye. Areas of and polymorphous opacities located at the level of Descemet’s retinal pigment epithelial hypertrophy of peripheral retina in membrane and corneal endothelium. The endothelium had a be- the right (C) and left (D) eye. aten metal appearance. “Surface of the moon” was observed in Ryc. 2. Kolorowe zdjęcia dna oka. Zwyrodnienie nabłonka barwniko- retro-illumination. The pupils were equal, slightly irregular and reac- wego siatkówki nosowo do dołka w prawym (A) oku. Suro- wicze odwarstwienie w plamce w tylnym biegunie lewego (B) tive to light. In the left eye, we noticed that the inner pigment layer oka. Obszary hipertrofii nabłonka barwnikowego obwodowej at the pupil margin has bunched up and rotated forward through siatkówki w prawym (C) i lewym (D) oku. the pupil at 12 o’clock position (Fig. 1). Fundus examination sho- wed orange-pink optic disc with sharp, flat margins. The vertical Non-contact specular microscopy revealed bilateral varia- cup-to-disc ratio was symmetric and equalled 0.5. Retinal pigment tions in cell size and morphology and vesical-like changes sur- epithelium degeneration was localized nasal to the fovea in the rounded by hexagonal cells of the right eye (Fig. 3). The endo- right eye. Moreover, serous macular detachment with subretinal thelial densities were 2405 cells/mm2 in the right eye and 2299 fluid at the posterior pole was suspected in the left eye. Areas of cells/mm2 in the left eye. The endothelial cell count was slightly retinal pigment epithelial hypertrophy of peripheral retina was seen diminished. Endothelial polymorphism and polymegathism were mainly in the infero-nasal segment of the right eye and infero-tem- noted. The central corneal thickness was 562 µm and 546 µm poral segment of the left eye (Fig. 2). in the right and left eye, respectively. Klinika Oczna 2019, 121 (3) ISSN 0023-2157
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