Case #18 – Marfan Syndrome

Marfan Syndrome – Page 30 of 50

Choroidal Detachments Choroidal detachments present typically as a convex elevation that is attached at the ora serrata with a sonolucent area between the retina-choroid complex and sclera. A choroidal detachment is due to fluid accumulation in the potential space between the choroid and sclera. Unlike a retinal detachment, there is no separation between

Marfan Syndrome – Page 30 of 502021-11-30T22:34:42+00:00

Marfan Syndrome – Page 29 of 50

Osseous Choristoma of the Choroid (Case 2) The OCT en face projection image above left appears completely normal in zones with and without the underlying lesion. The middle top image is a B-scan ultrasound at low sensitivity and the middle bottom is at high sensitivity and both are sections through the right eye lesion.

Marfan Syndrome – Page 29 of 502021-11-30T22:34:36+00:00

Marfan Syndrome – Page 28 of 50

Osseous Choristoma of the Choroid (Case 2) An asymptomatic 32-year old male with visual acuity OD 20/20 and OS 20/20 presented for differential diagnosis of a substantial lesion OD. Fundus examination revealed a 5x5 disc diameter light colored zone below the retinal vessels and surrounding a normal appearing disc OD. The OCT scans

Marfan Syndrome – Page 28 of 502021-11-30T22:34:30+00:00

Marfan Syndrome – Page 27 of 50

Osseous Choristoma of the Choroid (Case 1) A montage fundus image of the 11-year old patient.

Marfan Syndrome – Page 27 of 502021-11-30T22:34:24+00:00

Marfan Syndrome – Page 26 of 50

Osseous Choristoma of the Choroid (Case 1) Because it could have also been an amelanotic malignant melanoma, B-mode ultrasonography was performed and revealed a flat lesion at the level of the choroid. The persistent echoes, even at low sensitivity levels, were typical of tissue containing calcium (see right figure); hence, the diagnosis of a

Marfan Syndrome – Page 26 of 502021-11-30T22:34:18+00:00

Marfan Syndrome – Page 25 of 50

Malignant Melanoma (Cont'd) The ultrasonogram of the right eye shows an elevated convex mass, characteristic of malignant melanoma. Note the overlying retinal detachment with fluid separating the retina from the anterior tumor surface. The cross-vector A-mode ultrasonogram displays separate peaks for the retina and the anterior tumor surface. Because of the analog presentation of

Marfan Syndrome – Page 25 of 502021-11-30T22:34:07+00:00

Marfan Syndrome – Page 24 of 50

Malignant Melanoma Malignant melanoma is the most common neoplastic choroidal tumor and ranges in size from a minimally elevated mass to one that can extend outside of the globe.2 The importance of ultrasonography in the detection of tumors is highlighted in a series3 in which eyes with clear media and suspected malignant melanomas were enucleated.

Marfan Syndrome – Page 24 of 502021-11-30T22:34:01+00:00

Marfan Syndrome – Page 23 of 50

Intraocular Tumors The use of B-mode ultrasonography is invaluable in the detection of intraocular tumors, especially those that cause retinal detachment. Since an overlying detachment can hide an insidious etiology, ultrasonography should be performed to exclude the presence of an intraocular tumor in suggestive cases, especially in cases of nonrhegmatogenous retinal detachments

Marfan Syndrome – Page 23 of 502021-11-30T22:33:55+00:00

Marfan Syndrome – Page 22 of 50

Differentiating Retinal Detachments Sometimes blood in the vitreous, as seen in a vitreal hemorrhage, adhering to the posterior vitreal face can be mistaken for a retinal detachment. The two conditions can be differentiated by lowering the sensitivity of the instrument. Since retinal tissue is a better reflector of sound than is blood, echoes

Marfan Syndrome – Page 22 of 502021-11-30T22:33:48+00:00

Marfan Syndrome – Page 21 of 50

Retinal Detachments (Cont'd) A complete bullous retinal detachment is unmistakable in its appearance. The echoes of a highly elevated detachment appear on the ultrasonogram as a convex-shaped white reflection that extends anteriorly into the vitreous from points of attachment at the temporal and nasal ora serrata and the optic nerve, giving the appearance

Marfan Syndrome – Page 21 of 502021-11-30T22:33:42+00:00