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Ocular Immunology and Inflammation Volume 26, 2018 - Issue 2
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Letter to the Editor

A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome

Lubhani JainRetina and Uveitis Service, LV Prasad Eye Institute, Bhubaneswar, IndiaCorrespondence[email protected] [email protected]
, MS,
Namrata GuptaRetina and Uveitis Service, LV Prasad Eye Institute, Bhubaneswar, India
, MS,
Mamatha M. ReddyBiology Service, LV Prasad Eye Institute, Bhubaneswar, India
, PhD,
Ruchi MittalDalmia Ophthalmic Pathology Service, LV Prasad Eye Institute, Bhubaneswar, India
, MD,
Manas Ranjan BarikBiology Service, LV Prasad Eye Institute, Bhubaneswar, India
, MSc,
Bharat PanigrahiInternal Medicine Service, L V Prasad Eye Institute, Bhubaneswar, India
, MD,
Tom MonieMRC Human Nutrition Research, Elsie Widdowson Laboratory, Cambridge, UK
, PhD &
Soumyava BasuRetina and Uveitis Service, LV Prasad Eye Institute, Bhubaneswar, India
, MS show all
Pages 292-294 | Received 22 May 2016, Accepted 27 Jun 2016, Published online: 13 Sep 2016

Figures & data

FIGURE 1. Clinical photographs. (A) Right eye: keratic precipitates (white arrows), iris nodules (red arrow). (B) Left eye: posterior synechiae (white arrow), complicated cataract (black arrow), iris nodule (red arrow). (C) Left eye: iris nodules (red arrow), magnified image. (D) Swelling of knee joints.

FIGURE 1. Clinical photographs. (A) Right eye: keratic precipitates (white arrows), iris nodules (red arrow). (B) Left eye: posterior synechiae (white arrow), complicated cataract (black arrow), iris nodule (red arrow). (C) Left eye: iris nodules (red arrow), magnified image. (D) Swelling of knee joints.

FIGURE 2. Histopathology and DNA sequencing. (A) Left eye iris nodule biopsy: non-caseating granuloma, histiocytes (white arrow), lymphocytes (red arrow). (B) Right eye vitreous: histiocytes (white arrows). (C) G>A transition in exon 4 of NOD2. (D) Multiple sequence alignment of E667 in helical domain 2 of NACHT in NOD2.

FIGURE 2. Histopathology and DNA sequencing. (A) Left eye iris nodule biopsy: non-caseating granuloma, histiocytes (white arrow), lymphocytes (red arrow). (B) Right eye vitreous: histiocytes (white arrows). (C) G>A transition in exon 4 of NOD2. (D) Multiple sequence alignment of E667 in helical domain 2 of NACHT in NOD2.

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