Peripapillary granuloma secondary to sarcoidosis: a case report

¹Ophthalmology Department “A”, Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco

^&Corresponding author
Kawtar Bouirig, Ophthalmology Department “A”, Ibn Sina University Hospital (Hôpital des Spécialités), Mohammed V University, Rabat, Morocco

Introduction    

Sarcoidosis is a multisystem chronic inflammatory disorder of unknown etiology. Its diagnosis is based on a combination of ophthalmic clinical signs and laboratory investigations. The gold standard for the diagnosis of sarcoidosis is histopathological proof using biopsy tissue. All ocular structures can be affected, the combination of both neurological and ocular involvement occurs in 2%-3% of all sarcoidosis patients [1], with optic nerve involvement rarely including optic nerve head (ONH) granulomata [1]. We report the case of optic nerve involvement as a rare manifestation of sarcoidosis.

Patient and observation     

Patient information: we report the case of a 59-year-old female patient who consulted at the ophthalmology emergency for a rapidly progressive unilateral visual impairment of the left eye. The interrogation revealed that her sister had a history of cutaneous and pulmonary sarcoidosis discovered two years ago.

Clinical findings: the ophthalmic examination showed a best-corrected visual acuity of «counting the fingers» in the left eye and 10/10 in the right eye. Eyelid examination objectified multiple eyelid nodules in both eyes. Anterior segment examination showed absence of anterior segment inflammation. Fundus examination have found in the left eye a voluminous optic disc granuloma measuring 3 optic disc diameters with margin blurring associated with a serous retinal detachment reaching the posterior pole, a diffuse retinal periphlebitis called “candle-wax” spots, we also objectified hyalitis and retinal «snow banking» (Figure 1). No inflammatory findings were objectified in the right eye. A systemic examination showed specific skin lesions called “lupus pernio” (Figure 2) in the form of nodular granulomas in the face, nodules and plaques affected the digits.

Diagnostic assessment: fluorescein angiography of the left eye showed a hypofluorescent peripapillar lesion at the early time gradually becoming hyperfluorescent at the late time corresponding to the papillary granuloma, progressive filling of the serous retinal detachment and diffuse periphlebitis (Figure 3). Macular and papillary optical coherence tomography (OCT): objectified a papillary iso-reflective protruding lesion associated with serous retinal detachment. Ultrasonography revealed elevated optic nerve mass with low internal reflectivity (Figure 4). Orbital CT passing through the optic nerve finds at the level of the left papillae left a tissue formation extending to the optic nerve, evoking an optic disc granuloma (Figure 5). The thoracic CT had objectified the presence of bilateral hilar lymphadenopathy and interstitial infiltrate, stage II according to the classification of pulmonary sarcoidosis. A skin biopsy was performed in favor of a non-caseating granulomas suggestive of sarcoidosis. Angiotensin-converting enzyme tested positive at 119 U/L.

Therapeutic intervention: this ocular condition had justified treatment with corticosteroid bolus 15�mg/kg/day then relay orally 1�mg/kg/day associated with calcium and potassium supplementation for several months then a follow-up at a decreasing dose of corticosteroid therapy.

Follow-up and outcomes: the evolution was marked by a huge improvement in the visual acuity from «finger counts» to 4/10 after three days of bolus and then to 7/10 after 15 days of oral corticosteroid therapy. The examination of the fundus as well as the realization of an angiography with fluorescein and OCT after bolus had objectified a great decrease in the size of the granuloma and the persistence of a thin blade of serous retinal detachment. Regression of skin lesions was also observed after treatment.

Informed consent: a written informed consent was obtained from the patient.

Discussion     

Optic disc involvement during sarcoidosis is rare and affects less than 1% of patients with this disease. [2,3]. The frequency of familial forms is 2.4% of all ethnicities combined, with a higher risk among West Indians. There is a higher frequency of familial sarcoidosis in homozygotes compared to dizygotes. In homozygotes, there is a simultaneity of date of revelation and clinical, radiological and biological identity. While all studies agree on the patent nature of familial sarcoidosis, there is no unanimity as to the mode of transmission [4]. Immunogenetic studies make it possible to find areas of genomes predisposing to the disease and its evolutionary profile. Thus, some alleles confer susceptibility for the disease such as HLA-DR 11, 12, 14, 15, 17 while others confer protection HLA-DQ DR1, DR4 and perhaps HLA-DQ 0202 [5]. Optic nerve manifestations may be primary papillary edema or secondary to intraocular inflammation, retrobulbar optic neuritis, optic nerve infiltration, or optic atrophy [6,7]. The granuloma can interest the head of the optic nerve in the form of a pseudo-tumor yellowish-white mass, or reach the intracranial portion of the optic nerve. The computed tomography scan then finds a localized enlargement of the optic nerve: the granuloma, of higher density than the central nervous system, takes the contrast. In magnetic resonance imaging (MRI), it results in a hypersignal in T2. Although a meningioma or glioma of the optic nerve can give a similar picture, the possibility of sarcoidosis granuloma must however be evoked in the presence of any enlargement of tumor appearance of the optic nerve [8].

The diagnosis of sarcoidosis etiology is based on the following arguments: 1. The presence of mass on the optic nerve head c with a serous retinal detachment, periphlebitis, the presence of ant eggs. The angiographic aspect: early hypofluorescence and late hyperfluorescence of the lesion. 2. The existence of a stage II pulmonary reach (radiological diagnosis). 3. Pathological confirmation of skin biopsy. 4. Angiotensin-positive testing. 5. The favorable evolution of the optic disc granuloma and specific skin lesions under corticosteroid therapy. In most cases, these papillary disorders respond very well to a treatment with corticosteroids that allow a good visual recovery [7], which was the case of our patient. Sometimes treatment is more difficult with a reappearance of lesions during the decrease or discontinuation of corticosteroids, requiring prolonged treatment. The visual prognosis depends on the topography of the granuloma in relation to the macular area and the existence of a choroidal neovascular membrane of the posterior pole [9].

Conclusion     

Sarcoidosis is a multisystemic granulomatosis, its etiology remains unknown. The female predominance of sarcoidosis is clear, the existence of familial forms has strengthened the genetic hypothesis. Primary damage to the optic nerve by sarcoidosis granuloma is the rarest of the optic nerve damage, but can be the inaugural manifestation of the disease. Treatment is based on corticosteroid therapy, it has given overall good results.

Competing interests     

The authors declare no competing interests.

Authors' contributions     

All the authors have read and agreed to the final manuscript.

Figures     

Figure 1: A) retinography of the left eye: voluminous peripapillary granuloma measuring 3 papillary diameters with margin blurring s associated with vasculitis; B) right eye: presence of drusen at the posterior pole

Figure 2: A) image showing skin lesions with small nodules before (left); B) after corticosteroid treatment (right)

Figure 3: fluorescein angiography: A) hypofluorescent peripapillary lesion at the early time (left); B) gradually becoming hyperfluorescent at the late time (right)

Figure 4: ocular ultrasound of the left eye: elevated optic nerve mass with low internal reflectivity

Figure 5: orbital CT: a tissue formation extending to the optic nerve evoking a papillary granuloma

References