Clinical features and treatment outcomes of a patient with retinitis pigmentosa secondary to adult coats' disease

doi:10.21203/rs.3.rs-2604876/v1

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Case Report

Clinical features and treatment outcomes of a patient with retinitis pigmentosa secondary to adult coats' disease

https://doi.org/10.21203/rs.3.rs-2604876/v1

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Retinitis pigmentosa(RP) is a set of hereditary retinal diseases. We describe a patient who suffered retinitis pigmentosa secondary to adult coats' disease. The patient had undergone pars plana vitrectomy(PPV),intravitreal injection of anti-VEGF drugs as well as steroids. Eventually, the patient had a good anatomical result postoperatively.

adult coats' disease

PPV

intravitreal injection

The prevalence of typical RP is approximately 1/4000 worldwide ¹. At present, more than 70 pathogenic genes are associated with RP, however, the pathogenesis is still unclear and this diversity of pathophysiology makes treatment extremely challenging². Typical RP is a group of hereditary degenerative diseases characterized by progressive loss of photoreceptors and RPE cells. Degeneration and apoptosis of rod photoreceptors in the peripheral retina and slowly develops to the central retina are the main causes of persistent loss of vision and eventually blindness³. Coats' disease is an idiopathic non-hereditary disease defined as telangiectasia in the retina, which leads to intraretinal and subretinal exudation in the absence of vitreoretinal traction⁴. It had been reported many cases about Coats’‑like RP which is an atypical form of RP bilaterally in later stages characterized by vascular abnormalities, but the association of RP and Coats' disease is still unknown⁵. We present a case of retinitis pigmentosa secondary to adult coats' disease.

A 51-year-old male patient presented to our hospital with complain of painless visual loss in his right eye for six months. His family history was negative, meanwhile, he denied history of night blindness and any systemic diseases such as diabetes, hypertension. Best-corrected visual acuity was 15/100 in the right eye (OD) and 10/20 in the left eye (OS). Intraocular pressures were normal in both eyes. A complete ophthalmologic exam was performed. Anterior segment examination was unremarkable in both eyes. The fundus of the left eye was normal(Fig. 1a). In the right eye, the lens was opaque and wide-field fundus imaging was remarkable for peripheral tortuous retinal arterioles with massive intraretinal and subretinal exudation in the macular area associated with peripheral retinal pigment epithelial (RPE) cells atrophy and “bone-spicule” pigmentary changes in the temporal quadrant. In addition, grayish lesions were observed in the adjacent peripheral retina (Fig. 1b). Fluorescein angiography(FA) showed early stage multiple miliary aneurysms, active leakage from the peripheral tortuous retinal telangiectasias, pigment epithelial window defects and adjacent capillary non-perfusion OD(Fig. 2). Visual field testing revealed inferior nasal defect OD(Fig. 3).Optical coherence tomography (OCT) showed epiretinal membrane associated with hard exudation and subretinal fluid OD (Fig. 4a). The patient was diagnosed with adult coats' disease, secondary retinitis pigmentosa(SRP),macular epiretinal membrane(MEM) and cataract OD. With informed consent of the patient, intravitreal injection of 0.05 mg Conbercept was performed, and one week later he underwent PPV with membrane peeling under local anesthesia. The internal limiting membrane was also removed and the telangiectasias were simultaneously treated with laser photocoagulation, balanced salt solution was used for tamponade, as well as phacoemulsification and intraocular lens implantation. One month postoperatively, Best-corrected visual acuity was 20/100 OD, Anterior segment examination was normal, fundus examination revealed partial hard exudation reduced and well-applied photocoagulation scars in the focal area (Fig. 1c),OCT confirmed the epiretinal membrane was removed, but the intraretinal exudation still existed(Fig. 4b). So he repeatedly received intravitreal injection of 0.05 mg Conbercept. One month later, OCT showed the intraretinal hard exudation remained(Fig. 4c). Subsequently he received intravitreal injection of 0.7 mg dexamethasone implant(Ozurdex) as an replacement. About four months later, Best-corrected visual acuity was improved to 25/100, the OCT showed the intraretinal exudation mostly resolved along with disrupted ellipsoid zone involved the macular fovea(Fig. 4d).

RP used to be called pigmentary retinopathy, the typical clinical features are bilateral progressive peripheral visual field defect, night blindness, retinal bone spicule intraretinal pigmentation,abnormal electroretinogram⁶ and atrophy of RPE cells^5,7. SRP, which also called pseudo-retinitis pigmentosa, is a kind of retinal degenerative diseases caused by primary disease, such as inflammation, trauma, retinal choroidal obstruction as well as ocular tumors⁸. However, SRP can be presented as bone-spicule pigmentation accompanied with tortuous or abnormal diameter vessels mainly distributed in the primary focus area, concurrently the uninvolved retinal area and optic disc are generally normal. Most of the patients occur in monocular and have no night blindness⁹. This patient was consistent with SRP, meanwhile, it should be differentiated from unilateral RP and sector RP. The functional changes and fundus appearance of unilateral RP conforms with typical RP and excludes an inflammatory cause in the affected eye¹⁰. Sector RP is usually bilateral symmetry by pigmentary changes limited to one or two quadrants, visual field defects only in the regions of retinal pigmentation¹¹.These two subtypes didn’t accord with the characteristics of this patient.

Coats' disease is an idiopathic, nonhereditary retinal vascular disease, the pathogenesis of which includes damage to the blood-retinal barrier resulting in intraretinal fluid and lipid exudation. In addition, weakening of the retinal vascular walls lead to telangiectasia, aneurysms, and progressive leakage¹². In advanced cases, it may develop into complete retinal detachment and neovascular glaucoma, which usually leads to irreversible vision loss^13,14. Coats' disease usually occurs in childhood and has a low incidence in adults. The younger the patient is, the more serious the symptoms are^13,15. Previous studies have shown that vascular endothelial growth factor (VEGF) levels in aqueous humor and vitreous of patients with Coats’ disease are increased. In contrast, VEGF levels in patients with choroidal neovascularization secondary to age-related degeneration and are much lower than Coats’ disease¹⁶,suggesting that VEGF-mediated angiogenesis may be involved in the pathogenesis of Coats disease¹⁷.Another research also found that the severity of Coats’ disease was correlated with levels of cytokines in aqueous humor and vitreous, such as IL-6 and IL-8 may be involved in the inflammatory process with adult Coats’ disease¹⁸. The gold standard test for diagnosis is FA. Besides, OCT can identify macular edema and exudates¹⁹. This patient was consistent with stage 2B Coats disease according to Shields’ Classification²⁰. The treatment of Coats’ disease varies according to different stages of disease²¹,including laser photocoagulation, cryotherapy, intravitreal steroids or anti-VEGF agents and vitreoretinal surgery, with outcome ranging from excellent visual acuity to no perception of light²².

We suspected this patient was a rare case of SRP induced by Coats' disease. The following reasons include: First, retinal pigmentation changes are secondary to inflammation which was initially considered to be the main pathogenesis of RP⁹, it is specifically driven by retinal antigens²³;Second, the patient was involved monocularly, the secondary focus coincided with the primary affected area; Third, coats' disease maybe also lead to epiretinal membrane due to chronic leakage for this patient^24,25.

For the treatment of this patient, we firstly choose intravitreal injection of Conbercept for anti-VEGF therapy, Subsequently intraoperative PPV combined with MEM peeling and laser photocoagulation was performd²⁶, it had been proved to be right for MEM was cured. However, the subretinal hard exudation existed even though intravitreal injection of Conbercept was conducted twice. So we changed to Ozurdex as a replacement. Eventually, the exudation almost absorbed². Previously studies pointed out the severity of Coats’ disease in children is significantly related to the concentration of intraocular VEGF, in the meantime, cytokines may be involved in the inflammatory process of adult patients with Coats’ disease. It may explain the poor effect of anti-VEGF therapy and the better effect of steroids for this patient¹⁸. Unfortunately, due to longstanding extensive photoreceptor damage, the visual acuity improvement of the patient was not obvious, even with good postoperative anatomical results²⁷.

In conclusion, adult Coats’ disease is a rare disease. The prognosis of adult Coats’ disease is better than children. At the same time, it may be accompanied with a series of ocular complications. The increased severity of Coats disease is related to the concentration of VEGF and inflammatory factors in the eye. Future prospective studies to choose the appropriate treatment is still challenging.

Author contributions

Writing and data collecting : Wenzhong Fu

Supervision: Hongxia Xu

Analysis and interpretation:Yujun Ma

Design and approval: Huaiyan Jiang

Ethics approval and consent to participate

The present study was conducted in accordance with the principles of the Declaration of Helsinki and the local ethics committee ruled that no formal ethics approval was required in this case report.

Competing interests

The authors report no conflict of interest.

Funding

No funding has been received.

Consent for publication

Written informed consents were obtained from the patient for publication of this case report and any accompanying images within the manuscript.And the participants had been aware of the study purpose, risks, and benefits.

Acknowledgements

Not applicable.

Availability of data and materials

The data that support the findings of this study are openly available in figshare at https://doi.org/10.6084/m9.figshare.21342060

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No competing interests reported.

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Clinical features and treatment outcomes of a patient with retinitis pigmentosa secondary to adult coats' disease

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