English: Clinical manifestations associated with ROSAH syndrome. (A) Optic disc elevation. Fundus photographs demonstrating flagrant optic disc oedema (black arrow) in patient F9.2 (left) and more subtle changes in patient F9.3 (right). (B) Inflammatory arthritis with erosive changes in patient F3.3 (top left) and patient F13.1 (top right). X-ray demonstrating advanced diffuse changes of inflammatory arthritis involving wrist, metacarpophalangeal and interphalangeal joints with evolving joint deformities for patient F13.1 (bottom). (C) Gastrointestinal inflammation. Patient F2.2’s endoscopy for dysphagia revealed oesophageal linear furrows (left, arrows) and erythematous duodenal mucosa (right, arrow). (D) Massive splenomegaly. Splenic histology showing red pulp expansion with mild histiocytic hyperplasia from patient F2.2 (resected at age 13, 26×15×6 cm, weighing 1320 grams) (left). Abdominal MRI from patient F1.1 at age 13 demonstrating hepatosplenomegaly with spleen craniocaudal diameter of 22.5 cm and liver craniocaudal diameter of 18.6 cm (right) in the coronal plane (normal range for age: spleen 8–12 cm, liver 8.5–14 cm).27 (E) Premature basal ganglia and brainstem mineralisation. Susceptibility weighted imaging from brain MRIs showing decreased signal intensity consistent with premature mineralisation of the globus pallidi (small black arrow), substantia nigra (open white arrows) and red nuclei (red arrows). The mineralisation worsens with age eventually involving the caudate nuclei and putamina (white arrow heads) (top row: patient F1.1, bottom row: patient F7.1). (F) Dental caries. Sjögren’s disease-like pattern of dental caries in patient F4.1. (G) Short dental roots. Three-dimensional rendering and two-dimensional slice of the maxillary central incisor from F5.3 (left) and an age matched healthy control (right). The crown length is similar between the teeth (green line to blue line). However, the root length is one third in F5.3 (blue line to red line). ROSAH, retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache.