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DIAGNOSTIC and THERAPEUTIC CHALLENGES ● Mcdonald 931 Diagnostic and Therapeutic Challenges Edited by H. Richard McDonald Submitted by Lucy H.Y. Young; Commented by Jeffrey G. Gross, James C. Lai and Jeffrey L. Shakin, and John T. Thompson his case was submitted by Dr. Lucy H.Y. Young was evaluated 2 years earlier by another physician. Tof the Massachusetts Eye and Ear Infirmary, Bos- His visual acuity at that time was 20/25 in both eyes ton, Massachusetts, for the Diagnostic and Therapeu- attributed to bilateral choroidal folds associated with tic Challenges Section of RETINA. short axial length (18.5 mm in each eye). On exami- nation his visual acuity is 20/40–2 right eye and 20/100 Case Report left eye. The refraction is not provided but assumed to A 23-year-old healthy white graduate student was referred to our be hyperopic (although emmetropia and even myopia clinic because of decreased vision, left eye worse than right, for the may occur with short axial lengths). Physical exami- last 4 months. Two years earlier, the patient was seen by the nation disclosed a stature described as proportionately referring physician and was diagnosed with choroidal folds bilat- petite. His height was 4=11Љand he was accompanied erally associated with short axial length (18.5 mm bilaterally). Visual acuity was 20/25 bilaterally then. On our examination, by parents of normal stature. Intraocular pressures and visual acuity with correction was 20/40-2 in the right eye and anterior segment examination were normal. 20/100 in the left. External examination showed a proportionately The fundus photograph of both eyes shows crowded Љ petite man (4=11 tall) accompanied by parents who were taller optic nerves with no visible cupping. The major reti- (5=5Љ tall mother and 5=11Љ father). Intraocular pressures were measured to be 17 mmHg in the right eye and 18 mmHg in the left. nal vessels are mildly tortuous. The macula has Anterior segment examination was unremarkable. Fundus exami- clumps of RPE associated with chorioretinal folds. nation showed crowded optic nerves and multiple chorioretinal Although an epiretinal membrane is described by the folds through the macula with a component of epiretinal membrane author it is not clearly seen in the photographs and bilaterally (Figure 1). In addition, pigment clumpings at the retinal pigment epithelium (RPE) level with shallow serous detachment of there is no straightening of the perimacular vessels the macula were present, left worse than right. Fluorescein angiog- that are typically seen with a significant epiretinal raphy showed macular RPE disturbance with epiretinal membrane membrane. There is a horizontal macular abnormality and serous detachment, left Ͼ right (Figure 1). B-scan revealed that may represent a fold greater in the left eye. diffuse choroidal thickening and elevated optic nerve and mac- ula bilaterally (Figure 2). OCT evaluation showed irregular Fluorescein angiography reveals punctate disturbance inner retinal surface, reflective RPE changes, and subretinal of the RPE in the papillomacular retina in the mid- fluid, left Ͼ right (Figure 3). The patient denied any dental or phase of the right eye. There is leakage noted in the skin abnormalities. papillomacular retina and central macula with pooling We asked several experts for their opinion. of dye surrounded by a mild disturbance of the RPE in the late phase of the left eye. The B-scan ultrasound Dr. Jeffrey G. Gross (Columbia, SC): images show a small globe with choroidal thickening Dr. Young describes a 23-year-old white man with best imaged with the gain reduced as noted in the left a 4-month history of decreased vision in both eyes. He eye. There is a normal posterior echo from the crys- 930 DIAGNOSTIC AND THERAPEUTIC CHALLENGES ● McDONALD 931 Fig. 1. Fundus photograph. Note chorioretinal folds and epiretinal membrane in addition to shallow serous detachment with pigment clumpings. Fluorescein angiography showed diffuse retinal pigment epithelium disturbance with multiple leakage sites, left Ͼ right. talline lens and the vitreous is clear. There is no retinal Fig. 2. B-scan ultrasounds show diffuse choroidal thickening and or choroidal detachment. OCT images reveal in the macular elevation bilaterally (top, right; bottom, left). right eye a significant distortion of the inner retina possibly associated with a thin epiretinal membrane, in the macula. This is demonstrated by the B-scan tiny amount of subretinal fluid, and possibly a tiny ultrasound images of this patient. As a consequence of RPE clump. The left eye shows distortion and irreg- increased resistance to venous outflow by the vortex ularity of the inner retina, subretinal fluid, and atten- veins as a result of the thick sclera a progressive uation or shadowing of the RPE layer. congestion of the choroid usually occurs in the third to The most important piece of information is the axial fifth decade of life. Initially there may be retinal folds length. Microphthalmos can occur in different forms. in the macula with decreased vision eventually leading Simple microphthalmia is an eye that is normal except to a chronic effusion resulting in a nonrhegmatog- for a short total axial length. Complex microphthal- enous retinal detachment. mos is associated with either anterior or posterior Although the fluorescein angiogram is usually nor- malformations. A rare form of microphthalmos is pos- mal in nanophthalmos there can be a leopard-spot terior microphthalmos, which is associated with pap- appearance of the RPE as a result of uveal effusions. illomacular folds, absence of the capillary free zone, In posterior microphthalmos an absence of the capil- and hyperopia. This form of microphthalmos dispro- lary free zone may occur. The findings demonstrated portionately affects the posterior segment with a nor- in this patient have certain findings seen in atypical mal external appearance of the eye.1 Nanophthalmos and chronic idiopathic central serous chorioretinopa- refers to a bilateral condition in which the eye is less thy (ICSC). Typically these bilateral findings include than 19 mm in length with extremely thick sclera, a multiple leaks and a mottled appearance of the RPE. normal or slightly thicker crystalline lens, and severe The fluorescein angiogram of this patient showing hyperopia. Nanophthalmos may be associated with punctate leakage and pooling and the OCT showing uveal effusions and congested choroid that may begin serous detachments are consistent with these findings. 932 RETINA, THE JOURNAL OF RETINAL AND VITREOUS DISEASES ● 2005 ● VOLUME 25 ● NUMBER 7 Fig. 3. Optical coherence tomograms show irregular retinal surface, macular thickening, and serous detachments, left Ͼ right. A single case of ICSC with multiple leaks of the effectively ruled out. Kenny-Caffey syndrome is char- choroid resulting in chorioretinal pigment changes has acterized by 1) nanophthalmos associated with been described with Hallerman-Streiff syndrome. This crowded optic nerves or pseudopapilledema, and tor- syndrome includes nanophthalmos and dwarfism.2 tuous blood vessels, 2) medullary stenosis of the long The OCT in the patient presented demonstrates sig- bones, 3) proportional dwarfism, and 4) intermittent to nificant irregularity of the inner retina and folds that long-standing hypocalcemia due to mild to complete are consistent with nanophthalmos and there may be a hyperparathyroidism. Typically the patients have nor- thin ERM seen in the OCT of right eye. It is presumed mal intelligence.4,5 that the retinal folds result from a redundancy of the Therefore the patient described may have Kenny- retinal layer caused by retarded growth of the scleral and Caffey syndrome associated with nanophthalmos, tor- RPE layers. However, we do not see the severe infolding tuous retinal vessels, proportional dwarfism, and, that is more typically seen in posterior microphthalmos.1 since he is a graduate student, normal intelligence. Nanophthalmos generally is not associated with This syndrome occurs either sporadically or by auto- systemic syndromes although there are three that need somal recessive inheritance. This is consistent with to be considered in this patient: Hallermann-Streiff- this patient’s short stature and normal appearing par- Francois syndrome, oculodentodigital syndrome, and ents. The fluorescein angiogram demonstrates punc- Kenny-Caffey syndrome.3,4 Hallerman-Streiff-Fran- tate leakage, however this is not typically seen with cois is associated with birdlike facies, proportional nanophthalmos and leakage is not thought to be the dwarfism, cutaneous atrophy, and dental abnormali- cause of the uveal effusions that occur later in life in ties. Oculodentodigital syndrome is also associated these small eyes, rather it is a result of increased with dental abnormalities, as well as syndactyly, but resistance to venous outflow. ICSC has been reported not dwarfism. The patient described denied any dental in the Hallerman-Streiff syndrome but not in Kenny- or skin abnormalities so these two syndromes are Caffey syndrome. The two syndromes share similar DIAGNOSTIC AND THERAPEUTIC CHALLENGES ● McDONALD 933 features of nanophthalmos and proportional dwarfism Mucopolysaccharidoses are a group of lysosomal so it is reasonable to suggest that this patient may have enzyme storage disorders in which the body lacks the mild choroidal congestion as a result of the nanoph- ability to degrade glycosaminoglycans. There are dif- thalmos as well as chronic bilateral ICSC. Kenny- ferent subtypes depending on the actual enzymatic Caffey syndrome can be diagnosed by a radiologic deficiency.
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